SNP Links for Protein (Select 145309304) - SNP

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Links from Protein

Items: 1 to 20 of 3107

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Select item 14909781991.

rs1490978199 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:48662500 (GRCh38)
3:48699933 (GRCh37)
Canonical SPDI:: NC_000003.12:48662499:G:A
Gene:: CELSR3 (Varview), LINC02585 (Varview)
Functional Consequence:: coding_sequence_variant,upstream_transcript_variant,synonymous_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.48662500G>A, NC_000003.11:g.48699933G>A, NG_034061.1:g.5416C>T, NM_001407.3:c.135C>T, NM_001407.2:c.135C>T

Select item 14908836072.

rs1490883607 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AGGTGC [Show Flanks]
Chromosome:: 3:48656291 (GRCh38)
3:48693725 (GRCh37)
Canonical SPDI:: NC_000003.12:48656291:GGTGCAGGTGC:GGTGCAGGTGCAGGTGC
Gene:: CELSR3 (Varview)
Functional Consequence:: coding_sequence_variant,inframe_insertion
Validated:: by frequency,by alfa,by cluster
MAF:: GGTGCAGGTGCAGGTGC=0.000224/1 (ALFA)
GGTGCA=0.000007/1 (GnomAD)
GGTGCA=0.000223/1 (Estonian)
HGVS:: NC_000003.12:g.48656297_48656302dup, NC_000003.11:g.48693730_48693735dup, NG_034061.1:g.11619_11624dup, NM_001407.3:c.4468_4473dup, NM_001407.2:c.4468_4473dup, NP_001398.2:p.Cys1490_Thr1491dup

Select item 14906188563.

rs1490618856 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:48653622 (GRCh38)
3:48691055 (GRCh37)
Canonical SPDI:: NC_000003.12:48653621:G:A
Gene:: CELSR3 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000003.12:g.48653622G>A, NC_000003.11:g.48691055G>A, NG_034061.1:g.14294C>T, NM_001407.3:c.5445C>T, NM_001407.2:c.5445C>T

Select item 14900896984.

rs1490089698 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 3:48653667 (GRCh38)
3:48691100 (GRCh37)
Canonical SPDI:: NC_000003.12:48653666:C:A,NC_000003.12:48653666:C:T
Gene:: CELSR3 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000028/1 (ALFA)
A=0.000014/2 (GnomAD)
HGVS:: NC_000003.12:g.48653667C>A, NC_000003.12:g.48653667C>T, NC_000003.11:g.48691100C>A, NC_000003.11:g.48691100C>T, NG_034061.1:g.14249G>T, NG_034061.1:g.14249G>A, NM_001407.3:c.5400G>T, NM_001407.3:c.5400G>A, NM_001407.2:c.5400G>T, NM_001407.2:c.5400G>A

Select item 14900621235.

rs1490062123 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 3:48661510 (GRCh38)
3:48698943 (GRCh37)
Canonical SPDI:: NC_000003.12:48661509:C:G,NC_000003.12:48661509:C:T
Gene:: CELSR3 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000066/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
T=0.000223/1 (Estonian)
HGVS:: NC_000003.12:g.48661510C>G, NC_000003.12:g.48661510C>T, NC_000003.11:g.48698943C>G, NC_000003.11:g.48698943C>T, NG_034061.1:g.6406G>C, NG_034061.1:g.6406G>A, NM_001407.3:c.1125G>C, NM_001407.3:c.1125G>A, NM_001407.2:c.1125G>C, NM_001407.2:c.1125G>A

Select item 14900346376.

rs1490034637 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 3:48641479 (GRCh38)
3:48678912 (GRCh37)
Canonical SPDI:: NC_000003.12:48641478:T:A
Gene:: CELSR3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.48641479T>A, NC_000003.11:g.48678912T>A, NG_034061.1:g.26437A>T, NM_001407.3:c.8870A>T, NM_001407.2:c.8870A>T, NP_001398.2:p.Glu2957Val

Select item 14899954417.

rs1489995441 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 3:48661845 (GRCh38)
3:48699278 (GRCh37)
Canonical SPDI:: NC_000003.12:48661844:C:G,NC_000003.12:48661844:C:T
Gene:: CELSR3 (Varview), LINC02585 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.48661845C>G, NC_000003.12:g.48661845C>T, NC_000003.11:g.48699278C>G, NC_000003.11:g.48699278C>T, NG_034061.1:g.6071G>C, NG_034061.1:g.6071G>A, NM_001407.3:c.790G>C, NM_001407.3:c.790G>A, NM_001407.2:c.790G>C, NM_001407.2:c.790G>A, NP_001398.2:p.Glu264Gln, NP_001398.2:p.Glu264Lys

Select item 14898992728.

rs1489899272 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 3:48661197 (GRCh38)
3:48698630 (GRCh37)
Canonical SPDI:: NC_000003.12:48661196:C:A,NC_000003.12:48661196:C:T
Gene:: CELSR3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
A=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.48661197C>A, NC_000003.12:g.48661197C>T, NC_000003.11:g.48698630C>A, NC_000003.11:g.48698630C>T, NG_034061.1:g.6719G>T, NG_034061.1:g.6719G>A, NM_001407.3:c.1438G>T, NM_001407.3:c.1438G>A, NM_001407.2:c.1438G>T, NM_001407.2:c.1438G>A, NP_001398.2:p.Ala480Ser, NP_001398.2:p.Ala480Thr

Select item 14898705719.

rs1489870571 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:48640520 (GRCh38)
3:48677953 (GRCh37)
Canonical SPDI:: NC_000003.12:48640519:T:C
Gene:: CELSR3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.48640520T>C, NC_000003.11:g.48677953T>C, NG_034061.1:g.27396A>G, NM_001407.3:c.9065A>G, NM_001407.2:c.9065A>G, NP_001398.2:p.Gln3022Arg

Select item 148980046710.

rs1489800467 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:48652550 (GRCh38)
3:48689983 (GRCh37)
Canonical SPDI:: NC_000003.12:48652549:T:C
Gene:: CELSR3 (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=0.000014/2 (GnomAD)
C=0.000023/6 (TOPMED)
HGVS:: NC_000003.12:g.48652550T>C, NC_000003.11:g.48689983T>C, NG_034061.1:g.15366A>G, NM_001407.3:c.5638A>G, NM_001407.2:c.5638A>G, NP_001398.2:p.Thr1880Ala

Select item 148960752811.

rs1489607528 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 3:48661186 (GRCh38)
3:48698619 (GRCh37)
Canonical SPDI:: NC_000003.12:48661185:G:A,NC_000003.12:48661185:G:C
Gene:: CELSR3 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000005/1 (GnomAD_exomes)
C=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.48661186G>A, NC_000003.12:g.48661186G>C, NC_000003.11:g.48698619G>A, NC_000003.11:g.48698619G>C, NG_034061.1:g.6730C>T, NG_034061.1:g.6730C>G, NM_001407.3:c.1449C>T, NM_001407.3:c.1449C>G, NM_001407.2:c.1449C>T, NM_001407.2:c.1449C>G

Select item 148914452912.

rs1489144529 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:48648898 (GRCh38)
3:48686331 (GRCh37)
Canonical SPDI:: NC_000003.12:48648897:G:A
Gene:: CELSR3 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.48648898G>A, NC_000003.11:g.48686331G>A, NG_034061.1:g.19018C>T, NM_001407.3:c.6598C>T, NM_001407.2:c.6598C>T

Select item 148895529413.

rs1488955294 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:48644266 (GRCh38)
3:48681699 (GRCh37)
Canonical SPDI:: NC_000003.12:48644265:G:A
Gene:: CELSR3 (Varview), MIR4793 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,synonymous_variant
Validated:: by frequency,by cluster
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.48644266G>A, NC_000003.11:g.48681699G>A, NG_034061.1:g.23650C>T, NM_001407.3:c.8115C>T, NM_001407.2:c.8115C>T, NR_039956.1:n.15C>T

Select item 148854157214.

rs1488541572 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:48642879 (GRCh38)
3:48680312 (GRCh37)
Canonical SPDI:: NC_000003.12:48642878:A:G
Gene:: CELSR3 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.48642879A>G, NC_000003.11:g.48680312A>G, NG_034061.1:g.25037T>C, NM_001407.3:c.8412T>C, NM_001407.2:c.8412T>C

Select item 148850537615.

rs1488505376 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:48656277 (GRCh38)
3:48693710 (GRCh37)
Canonical SPDI:: NC_000003.12:48656276:G:A
Gene:: CELSR3 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000008/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.48656277G>A, NC_000003.11:g.48693710G>A, NG_034061.1:g.11639C>T, NM_001407.3:c.4488C>T, NM_001407.2:c.4488C>T

Select item 148828714516.

rs1488287145 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:48657115 (GRCh38)
3:48694548 (GRCh37)
Canonical SPDI:: NC_000003.12:48657114:C:T
Gene:: CELSR3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.48657115C>T, NC_000003.11:g.48694548C>T, NG_034061.1:g.10801G>A, NM_001407.3:c.3982G>A, NM_001407.2:c.3982G>A, NP_001398.2:p.Val1328Met

Select item 148778904617.

rs1487789046 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:48656208 (GRCh38)
3:48693641 (GRCh37)
Canonical SPDI:: NC_000003.12:48656207:G:A
Gene:: CELSR3 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
HGVS:: NC_000003.12:g.48656208G>A, NC_000003.11:g.48693641G>A, NG_034061.1:g.11708C>T, NM_001407.3:c.4557C>T, NM_001407.2:c.4557C>T

Select item 148705347218.

rs1487053472 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:48662079 (GRCh38)
3:48699512 (GRCh37)
Canonical SPDI:: NC_000003.12:48662078:A:G
Gene:: CELSR3 (Varview), LINC02585 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.48662079A>G, NC_000003.11:g.48699512A>G, NG_034061.1:g.5837T>C, NM_001407.3:c.556T>C, NM_001407.2:c.556T>C, NP_001398.2:p.Ser186Pro

Select item 148674976119.

rs1486749761 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:48660940 (GRCh38)
3:48698373 (GRCh37)
Canonical SPDI:: NC_000003.12:48660939:C:T
Gene:: CELSR3 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.48660940C>T, NC_000003.11:g.48698373C>T, NG_034061.1:g.6976G>A, NM_001407.3:c.1695G>A, NM_001407.2:c.1695G>A

Select item 148655356920.

rs1486553569 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:48661672 (GRCh38)
3:48699105 (GRCh37)
Canonical SPDI:: NC_000003.12:48661671:G:A
Gene:: CELSR3 (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)
A=0.000035/1 (TOMMO)
HGVS:: NC_000003.12:g.48661672G>A, NC_000003.11:g.48699105G>A, NG_034061.1:g.6244C>T, NM_001407.3:c.963C>T, NM_001407.2:c.963C>T

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