SNP Links for Protein (Select 27765076) - SNP

Select item 14907266401.

rs1490726640 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:42410469 (GRCh38)
15:42702667 (GRCh37)
Canonical SPDI:: NC_000015.10:42410468:C:T
Gene:: CAPN3 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Clinical significance:: likely-benign
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.42410469C>T, NC_000015.9:g.42702667C>T, NG_008660.1:g.67367C>T, NM_000070.3:c.2157C>T, NM_000070.2:c.2157C>T, NM_024344.2:c.2139C>T, NM_024344.1:c.2139C>T, NM_173087.2:c.1881C>T, NM_173087.1:c.1881C>T, NM_173088.2:c.621C>T, NM_173088.1:c.621C>T, NM_173090.2:c.162C>T, NM_173090.1:c.162C>T, NM_173089.2:c.162C>T, NM_173089.1:c.162C>T, NM_212464.2:c.*1255C>T, NM_212467.2:c.*1832C>T, NM_212465.2:c.1878C>T, NR_027911.1:n.3028C>T, NR_027912.1:n.2648C>T, NM_212464.1:c.*1255C>T, NM_212467.1:c.*1832C>T, NM_212465.1:c.1878C>T

Select item 14834068572.

rs1483406857 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:42402865 (GRCh38)
15:42695063 (GRCh37)
Canonical SPDI:: NC_000015.10:42402864:C:T
Gene:: CAPN3 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,coding_sequence_variant,synonymous_variant
Clinical significance:: likely-benign
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.42402865C>T, NC_000015.9:g.42695063C>T, NG_008660.1:g.59763C>T, NM_000070.3:c.1608C>T, NM_000070.2:c.1608C>T, NM_024344.2:c.1608C>T, NM_024344.1:c.1608C>T, NM_173087.2:c.1464C>T, NM_173087.1:c.1464C>T, NM_173088.2:c.72C>T, NM_173088.1:c.72C>T, NM_212464.2:c.*724C>T, NM_212467.2:c.*1301C>T, NM_212465.2:c.1347C>T, NR_027911.1:n.2497C>T, NR_027912.1:n.2117C>T, NM_212464.1:c.*724C>T, NM_212467.1:c.*1301C>T, NM_212465.1:c.1347C>T

Select item 14815138903.

rs1481513890 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:42410990 (GRCh38)
15:42703188 (GRCh37)
Canonical SPDI:: NC_000015.10:42410989:G:A
Gene:: CAPN3 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.42410990G>A, NC_000015.9:g.42703188G>A, NG_008660.1:g.67888G>A, NM_000070.3:c.2370G>A, NM_000070.2:c.2370G>A, NM_024344.2:c.2352G>A, NM_024344.1:c.2352G>A, NM_173087.2:c.2094G>A, NM_173087.1:c.2094G>A, NM_173088.2:c.834G>A, NM_173088.1:c.834G>A, NM_173090.2:c.375G>A, NM_173090.1:c.375G>A, NM_173089.2:c.375G>A, NM_173089.1:c.375G>A, NM_212464.2:c.*1468G>A, NM_212467.2:c.*2045G>A, NM_212465.2:c.2091G>A, NR_027911.1:n.3241G>A, NR_027912.1:n.2861G>A, NM_212464.1:c.*1468G>A, NM_212467.1:c.*2045G>A, NM_212465.1:c.2091G>A

Select item 14796825564.

rs1479682556 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 15:42410483 (GRCh38)
15:42702681 (GRCh37)
Canonical SPDI:: NC_000015.10:42410482:T:C
Gene:: CAPN3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000015/4 (TOPMED)
C=0.000021/3 (GnomAD)
HGVS:: NC_000015.10:g.42410483T>C, NC_000015.9:g.42702681T>C, NG_008660.1:g.67381T>C, NM_000070.3:c.2171T>C, NM_000070.2:c.2171T>C, NM_024344.2:c.2153T>C, NM_024344.1:c.2153T>C, NM_173087.2:c.1895T>C, NM_173087.1:c.1895T>C, NM_173088.2:c.635T>C, NM_173088.1:c.635T>C, NM_173090.2:c.176T>C, NM_173090.1:c.176T>C, NM_173089.2:c.176T>C, NM_173089.1:c.176T>C, NM_212464.2:c.*1269T>C, NM_212467.2:c.*1846T>C, NM_212465.2:c.1892T>C, NR_027911.1:n.3042T>C, NR_027912.1:n.2662T>C, NM_212464.1:c.*1269T>C, NM_212467.1:c.*1846T>C, NM_212465.1:c.1892T>C, NP_000061.1:p.Ile724Thr, NP_077320.1:p.Ile718Thr, NP_775110.1:p.Ile632Thr, NP_775111.1:p.Ile212Thr, NP_775113.1:p.Ile59Thr, NP_775112.1:p.Ile59Thr

Select item 14795310825.

rs1479531082 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 15:42408262 (GRCh38)
15:42700460 (GRCh37)
Canonical SPDI:: NC_000015.10:42408261:G:T
Gene:: CAPN3 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.42408262G>T, NC_000015.9:g.42700460G>T, NG_008660.1:g.65160G>T, NM_000070.3:c.1852G>T, NM_000070.2:c.1852G>T, NM_024344.2:c.1834G>T, NM_024344.1:c.1834G>T, NM_173088.2:c.316G>T, NM_173088.1:c.316G>T, NM_212464.2:c.*950G>T, NM_212467.2:c.*1527G>T, NM_212465.2:c.1573G>T, NR_027911.1:n.2723G>T, NR_027912.1:n.2343G>T, NM_212464.1:c.*950G>T, NM_212467.1:c.*1527G>T, NM_212465.1:c.1573G>T, NP_000061.1:p.Asp618Tyr, NP_077320.1:p.Asp612Tyr, NP_775111.1:p.Asp106Tyr

Select item 14791812016.

rs1479181201 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 15:42403774 (GRCh38)
15:42695972 (GRCh37)
Canonical SPDI:: NC_000015.10:42403773:A:G
Gene:: CAPN3 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,synonymous_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.42403774A>G, NC_000015.9:g.42695972A>G, NG_008660.1:g.60672A>G, NM_000070.3:c.1779A>G, NM_000070.2:c.1779A>G, NM_024344.2:c.1779A>G, NM_024344.1:c.1779A>G, NM_173087.2:c.1635A>G, NM_173087.1:c.1635A>G, NM_173088.2:c.243A>G, NM_173088.1:c.243A>G, NM_212464.2:c.*895A>G, NM_212467.2:c.*1472A>G, NM_212465.2:c.1518A>G, NR_027911.1:n.2668A>G, NR_027912.1:n.2288A>G, NM_212464.1:c.*895A>G, NM_212467.1:c.*1472A>G, NM_212465.1:c.1518A>G

Select item 14765925067.

rs1476592506 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 15:42410970 (GRCh38)
15:42703168 (GRCh37)
Canonical SPDI:: NC_000015.10:42410969:T:G
Gene:: CAPN3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.42410970T>G, NC_000015.9:g.42703168T>G, NG_008660.1:g.67868T>G, NM_000070.3:c.2350T>G, NM_000070.2:c.2350T>G, NM_024344.2:c.2332T>G, NM_024344.1:c.2332T>G, NM_173087.2:c.2074T>G, NM_173087.1:c.2074T>G, NM_173088.2:c.814T>G, NM_173088.1:c.814T>G, NM_173090.2:c.355T>G, NM_173090.1:c.355T>G, NM_173089.2:c.355T>G, NM_173089.1:c.355T>G, NM_212464.2:c.*1448T>G, NM_212467.2:c.*2025T>G, NM_212465.2:c.2071T>G, NR_027911.1:n.3221T>G, NR_027912.1:n.2841T>G, NM_212464.1:c.*1448T>G, NM_212467.1:c.*2025T>G, NM_212465.1:c.2071T>G, NP_000061.1:p.Cys784Gly, NP_077320.1:p.Cys778Gly, NP_775110.1:p.Cys692Gly, NP_775111.1:p.Cys272Gly, NP_775113.1:p.Cys119Gly, NP_775112.1:p.Cys119Gly

Select item 14762190318.

rs1476219031 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:42402881 (GRCh38)
15:42695079 (GRCh37)
Canonical SPDI:: NC_000015.10:42402880:G:A
Gene:: CAPN3 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,upstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000015.10:g.42402881G>A, NC_000015.9:g.42695079G>A, NG_008660.1:g.59779G>A, NM_000070.3:c.1624G>A, NM_000070.2:c.1624G>A, NM_024344.2:c.1624G>A, NM_024344.1:c.1624G>A, NM_173087.2:c.1480G>A, NM_173087.1:c.1480G>A, NM_173088.2:c.88G>A, NM_173088.1:c.88G>A, NM_212464.2:c.*740G>A, NM_212467.2:c.*1317G>A, NM_212465.2:c.1363G>A, NR_027911.1:n.2513G>A, NR_027912.1:n.2133G>A, NM_212464.1:c.*740G>A, NM_212467.1:c.*1317G>A, NM_212465.1:c.1363G>A, NP_000061.1:p.Glu542Lys, NP_077320.1:p.Glu542Lys, NP_775110.1:p.Glu494Lys, NP_775111.1:p.Glu30Lys

Select item 14734599009.

rs1473459900 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 15:42411324 (GRCh38)
15:42703522 (GRCh37)
Canonical SPDI:: NC_000015.10:42411323:C:A
Gene:: CAPN3 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.42411324C>A, NC_000015.9:g.42703522C>A, NG_008660.1:g.68222C>A, NM_000070.3:c.2418C>A, NM_000070.2:c.2418C>A, NM_024344.2:c.2400C>A, NM_024344.1:c.2400C>A, NM_173087.2:c.2142C>A, NM_173087.1:c.2142C>A, NM_173088.2:c.882C>A, NM_173088.1:c.882C>A, NM_173090.2:c.423C>A, NM_173090.1:c.423C>A, NM_173089.2:c.423C>A, NM_173089.1:c.423C>A, NM_212464.2:c.*1516C>A, NM_212467.2:c.*2093C>A, NM_212465.2:c.2139C>A, NR_027911.1:n.3289C>A, NR_027912.1:n.2909C>A, NM_212464.1:c.*1516C>A, NM_212467.1:c.*2093C>A, NM_212465.1:c.2139C>A

Select item 146658488510.

rs1466584885 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:42409805 (GRCh38)
15:42702003 (GRCh37)
Canonical SPDI:: NC_000015.10:42409804:G:A
Gene:: CAPN3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000008/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000015.10:g.42409805G>A, NC_000015.9:g.42702003G>A, NG_008660.1:g.66703G>A, NM_000070.3:c.2011G>A, NM_000070.2:c.2011G>A, NM_024344.2:c.1993G>A, NM_024344.1:c.1993G>A, NM_173087.2:c.1735G>A, NM_173087.1:c.1735G>A, NM_173088.2:c.475G>A, NM_173088.1:c.475G>A, NM_173090.2:c.16G>A, NM_173090.1:c.16G>A, NM_173089.2:c.16G>A, NM_173089.1:c.16G>A, NM_212464.2:c.*1109G>A, NM_212467.2:c.*1686G>A, NM_212465.2:c.1732G>A, NR_027911.1:n.2882G>A, NR_027912.1:n.2502G>A, NM_212464.1:c.*1109G>A, NM_212467.1:c.*1686G>A, NM_212465.1:c.1732G>A, NP_000061.1:p.Asp671Asn, NP_077320.1:p.Asp665Asn, NP_775110.1:p.Asp579Asn, NP_775111.1:p.Asp159Asn, NP_775113.1:p.Asp6Asn, NP_775112.1:p.Asp6Asn

Select item 146654150111.

rs1466541501 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:42411313 (GRCh38)
15:42703511 (GRCh37)
Canonical SPDI:: NC_000015.10:42411312:G:A
Gene:: CAPN3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.42411313G>A, NC_000015.9:g.42703511G>A, NG_008660.1:g.68211G>A, NM_000070.3:c.2407G>A, NM_000070.2:c.2407G>A, NM_024344.2:c.2389G>A, NM_024344.1:c.2389G>A, NM_173087.2:c.2131G>A, NM_173087.1:c.2131G>A, NM_173088.2:c.871G>A, NM_173088.1:c.871G>A, NM_173090.2:c.412G>A, NM_173090.1:c.412G>A, NM_173089.2:c.412G>A, NM_173089.1:c.412G>A, NM_212464.2:c.*1505G>A, NM_212467.2:c.*2082G>A, NM_212465.2:c.2128G>A, NR_027911.1:n.3278G>A, NR_027912.1:n.2898G>A, NM_212464.1:c.*1505G>A, NM_212467.1:c.*2082G>A, NM_212465.1:c.2128G>A, NP_000061.1:p.Gly803Arg, NP_077320.1:p.Gly797Arg, NP_775110.1:p.Gly711Arg, NP_775111.1:p.Gly291Arg, NP_775113.1:p.Gly138Arg, NP_775112.1:p.Gly138Arg

Select item 145709862212.

rs1457098622 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 15:42410950 (GRCh38)
15:42703148 (GRCh37)
Canonical SPDI:: NC_000015.10:42410949:T:C
Gene:: CAPN3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Clinical significance:: uncertain-significance
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.42410950T>C, NC_000015.9:g.42703148T>C, NG_008660.1:g.67848T>C, NM_000070.3:c.2330T>C, NM_000070.2:c.2330T>C, NM_024344.2:c.2312T>C, NM_024344.1:c.2312T>C, NM_173087.2:c.2054T>C, NM_173087.1:c.2054T>C, NM_173088.2:c.794T>C, NM_173088.1:c.794T>C, NM_173090.2:c.335T>C, NM_173090.1:c.335T>C, NM_173089.2:c.335T>C, NM_173089.1:c.335T>C, NM_212464.2:c.*1428T>C, NM_212467.2:c.*2005T>C, NM_212465.2:c.2051T>C, NR_027911.1:n.3201T>C, NR_027912.1:n.2821T>C, NM_212464.1:c.*1428T>C, NM_212467.1:c.*2005T>C, NM_212465.1:c.2051T>C, NP_000061.1:p.Ile777Thr, NP_077320.1:p.Ile771Thr, NP_775110.1:p.Ile685Thr, NP_775111.1:p.Ile265Thr, NP_775113.1:p.Ile112Thr, NP_775112.1:p.Ile112Thr

Select item 145701001613.

rs1457010016 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AACA [Show Flanks]
Chromosome:: 15:42410934 (GRCh38)
15:42703133 (GRCh37)
Canonical SPDI:: NC_000015.10:42410934:ACAAACA:ACAAACAAACA
Gene:: CAPN3 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Clinical significance:: pathogenic
Validated:: by frequency,by alfa,by cluster
MAF:: ACAAACAAACA=0./0 (ALFA)
ACAA=0.000004/1 (TOPMED)
ACAA=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.42410938_42410941dup, NC_000015.9:g.42703136_42703139dup, NG_008660.1:g.67836_67839dup, NM_000070.3:c.2318_2321dup, NM_000070.2:c.2318_2321dup, NM_024344.2:c.2300_2303dup, NM_024344.1:c.2300_2303dup, NM_173087.2:c.2042_2045dup, NM_173087.1:c.2042_2045dup, NM_173088.2:c.782_785dup, NM_173088.1:c.782_785dup, NM_173090.2:c.323_326dup, NM_173090.1:c.323_326dup, NM_173089.2:c.323_326dup, NM_173089.1:c.323_326dup, NM_212464.2:c.*1416_*1419dup, NM_212467.2:c.*1993_*1996dup, NM_212465.2:c.2039_2042dup, NR_027911.1:n.3189_3192dup, NR_027912.1:n.2809_2812dup, NM_212464.1:c.*1416_*1419dup, NM_212467.1:c.*1993_*1996dup, NM_212465.1:c.2039_2042dup, NP_000061.1:p.His774fs, NP_077320.1:p.His768fs, NP_775110.1:p.His682fs, NP_775111.1:p.His262fs, NP_775113.1:p.His109fs, NP_775112.1:p.His109fs

Select item 145103122114.

rs1451031221 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 15:42408316 (GRCh38)
15:42700514 (GRCh37)
Canonical SPDI:: NC_000015.10:42408315:T:C
Gene:: CAPN3 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000015.10:g.42408316T>C, NC_000015.9:g.42700514T>C, NG_008660.1:g.65214T>C, NM_000070.3:c.1906T>C, NM_000070.2:c.1906T>C, NM_024344.2:c.1888T>C, NM_024344.1:c.1888T>C, NM_173088.2:c.370T>C, NM_173088.1:c.370T>C, NM_212464.2:c.*1004T>C, NM_212467.2:c.*1581T>C, NM_212465.2:c.1627T>C, NR_027911.1:n.2777T>C, NR_027912.1:n.2397T>C, NM_212464.1:c.*1004T>C, NM_212467.1:c.*1581T>C, NM_212465.1:c.1627T>C, NP_000061.1:p.Ser636Pro, NP_077320.1:p.Ser630Pro, NP_775111.1:p.Ser124Pro

Select item 144777472715.

rs1447774727 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 15:42410954 (GRCh38)
15:42703153 (GRCh37)
Canonical SPDI:: NC_000015.10:42410954:TTT:TTTT
Gene:: CAPN3 (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant
Clinical significance:: pathogenic-likely-pathogenic
Validated:: by frequency,by alfa,by cluster
MAF:: TTTT=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000015.10:g.42410957dup, NC_000015.9:g.42703155dup, NG_008660.1:g.67855dup, NM_000070.3:c.2337dup, NM_000070.2:c.2337dup, NM_024344.2:c.2319dup, NM_024344.1:c.2319dup, NM_173087.2:c.2061dup, NM_173087.1:c.2061dup, NM_173088.2:c.801dup, NM_173088.1:c.801dup, NM_173090.2:c.342dup, NM_173090.1:c.342dup, NM_173089.2:c.342dup, NM_173089.1:c.342dup, NM_212464.2:c.*1435dup, NM_212467.2:c.*2012dup, NM_212465.2:c.2058dup, NR_027911.1:n.3208dup, NR_027912.1:n.2828dup, NM_212464.1:c.*1435dup, NM_212467.1:c.*2012dup, NM_212465.1:c.2058dup, NP_000061.1:p.Asp780Ter, NP_077320.1:p.Asp774Ter, NP_775110.1:p.Asp688Ter, NP_775111.1:p.Asp268Ter, NP_775113.1:p.Asp115Ter, NP_775112.1:p.Asp115Ter

Select item 144706479716.

rs1447064797 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 15:42410458 (GRCh38)
15:42702656 (GRCh37)
Canonical SPDI:: NC_000015.10:42410457:G:T
Gene:: CAPN3 (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.42410458G>T, NC_000015.9:g.42702656G>T, NG_008660.1:g.67356G>T, NM_000070.3:c.2146G>T, NM_000070.2:c.2146G>T, NM_024344.2:c.2128G>T, NM_024344.1:c.2128G>T, NM_173087.2:c.1870G>T, NM_173087.1:c.1870G>T, NM_173088.2:c.610G>T, NM_173088.1:c.610G>T, NM_173090.2:c.151G>T, NM_173090.1:c.151G>T, NM_173089.2:c.151G>T, NM_173089.1:c.151G>T, NM_212464.2:c.*1244G>T, NM_212467.2:c.*1821G>T, NM_212465.2:c.1867G>T, NR_027911.1:n.3017G>T, NR_027912.1:n.2637G>T, NM_212464.1:c.*1244G>T, NM_212467.1:c.*1821G>T, NM_212465.1:c.1867G>T, NP_000061.1:p.Glu716Ter, NP_077320.1:p.Glu710Ter, NP_775110.1:p.Glu624Ter, NP_775111.1:p.Glu204Ter, NP_775113.1:p.Glu51Ter, NP_775112.1:p.Glu51Ter

Select item 144572475217.

rs1445724752 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 15:42409370 (GRCh38)
15:42701569 (GRCh37)
Canonical SPDI:: NC_000015.10:42409370:A:AA
Gene:: CAPN3 (Varview)
Functional Consequence:: 5_prime_UTR_variant,frameshift_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.42409371dup, NC_000015.9:g.42701569dup, NG_008660.1:g.66269dup, NM_000070.3:c.1983dup, NM_000070.2:c.1983dup, NM_024344.2:c.1965dup, NM_024344.1:c.1965dup, NM_173087.2:c.1707dup, NM_173087.1:c.1707dup, NM_173088.2:c.447dup, NM_173088.1:c.447dup, NM_173090.2:c.-13dup, NM_173090.1:c.-13dup, NM_173089.2:c.-13dup, NM_173089.1:c.-13dup, NM_212464.2:c.*1081dup, NM_212467.2:c.*1658dup, NM_212465.2:c.1704dup, NR_027911.1:n.2854dup, NR_027912.1:n.2474dup, NM_212464.1:c.*1081dup, NM_212467.1:c.*1658dup, NM_212465.1:c.1704dup, NP_000061.1:p.Ala662fs, NP_077320.1:p.Ala656fs, NP_775110.1:p.Ala570fs, NP_775111.1:p.Ala150fs

Select item 144135939818.

rs1441359398 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:42410612 (GRCh38)
15:42702810 (GRCh37)
Canonical SPDI:: NC_000015.10:42410611:G:A
Gene:: CAPN3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000015.10:g.42410612G>A, NC_000015.9:g.42702810G>A, NG_008660.1:g.67510G>A, NM_000070.3:c.2209G>A, NM_000070.2:c.2209G>A, NM_024344.2:c.2191G>A, NM_024344.1:c.2191G>A, NM_173087.2:c.1933G>A, NM_173087.1:c.1933G>A, NM_173088.2:c.673G>A, NM_173088.1:c.673G>A, NM_173090.2:c.214G>A, NM_173090.1:c.214G>A, NM_173089.2:c.214G>A, NM_173089.1:c.214G>A, NM_212464.2:c.*1307G>A, NM_212467.2:c.*1884G>A, NM_212465.2:c.1930G>A, NR_027911.1:n.3080G>A, NR_027912.1:n.2700G>A, NM_212464.1:c.*1307G>A, NM_212467.1:c.*1884G>A, NM_212465.1:c.1930G>A, NP_000061.1:p.Asp737Asn, NP_077320.1:p.Asp731Asn, NP_775110.1:p.Asp645Asn, NP_775111.1:p.Asp225Asn, NP_775113.1:p.Asp72Asn, NP_775112.1:p.Asp72Asn

Select item 143963804419.

rs1439638044 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:42411761 (GRCh38)
15:42703959 (GRCh37)
Canonical SPDI:: NC_000015.10:42411760:C:T
Gene:: CAPN3 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Clinical significance:: likely-benign
Validated:: by frequency
MAF:: T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000015.10:g.42411761C>T, NC_000015.9:g.42703959C>T, NG_008660.1:g.68659C>T, NM_000070.3:c.2454C>T, NM_000070.2:c.2454C>T, NM_024344.2:c.2436C>T, NM_024344.1:c.2436C>T, NM_173087.2:c.2178C>T, NM_173087.1:c.2178C>T, NM_173088.2:c.918C>T, NM_173088.1:c.918C>T, NM_173090.2:c.459C>T, NM_173090.1:c.459C>T, NM_173089.2:c.459C>T, NM_173089.1:c.459C>T, NM_212464.2:c.*1552C>T, NM_212467.2:c.*2129C>T, NM_212465.2:c.2175C>T, NR_027911.1:n.3325C>T, NR_027912.1:n.2945C>T, NM_212464.1:c.*1552C>T, NM_212467.1:c.*2129C>T, NM_212465.1:c.2175C>T

Select item 143760859320.

rs1437608593 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 15:42409356 (GRCh38)
15:42701554 (GRCh37)
Canonical SPDI:: NC_000015.10:42409355:C:A,NC_000015.10:42409355:C:T
Gene:: CAPN3 (Varview)
Functional Consequence:: synonymous_variant,missense_variant,5_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.42409356C>A, NC_000015.10:g.42409356C>T, NC_000015.9:g.42701554C>A, NC_000015.9:g.42701554C>T, NG_008660.1:g.66254C>A, NG_008660.1:g.66254C>T, NM_000070.3:c.1968C>A, NM_000070.3:c.1968C>T, NM_000070.2:c.1968C>A, NM_000070.2:c.1968C>T, NM_024344.2:c.1950C>A, NM_024344.2:c.1950C>T, NM_024344.1:c.1950C>A, NM_024344.1:c.1950C>T, NM_173087.2:c.1692C>A, NM_173087.2:c.1692C>T, NM_173087.1:c.1692C>A, NM_173087.1:c.1692C>T, NM_173088.2:c.432C>A, NM_173088.2:c.432C>T, NM_173088.1:c.432C>A, NM_173088.1:c.432C>T, NM_173090.2:c.-28C>A, NM_173090.2:c.-28C>T, NM_173090.1:c.-28C>A, NM_173090.1:c.-28C>T, NM_173089.2:c.-28C>A, NM_173089.2:c.-28C>T, NM_173089.1:c.-28C>A, NM_173089.1:c.-28C>T, NM_212464.2:c.*1066C>A, NM_212464.2:c.*1066C>T, NM_212467.2:c.*1643C>A, NM_212467.2:c.*1643C>T, NM_212465.2:c.1689C>A, NM_212465.2:c.1689C>T, NR_027911.1:n.2839C>A, NR_027911.1:n.2839C>T, NR_027912.1:n.2459C>A, NR_027912.1:n.2459C>T, NM_212464.1:c.*1066C>A, NM_212464.1:c.*1066C>T, NM_212467.1:c.*1643C>A, NM_212467.1:c.*1643C>T, NM_212465.1:c.1689C>A, NM_212465.1:c.1689C>T, NP_000061.1:p.Asn656Lys, NP_077320.1:p.Asn650Lys, NP_775110.1:p.Asn564Lys, NP_775111.1:p.Asn144Lys

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