SNP Links for Protein (Select 31543385) - SNP

Links from Protein

Items: 1 to 20 of 350

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Select item 14912565301.

rs1491256530 [Homo sapiens]

Variant type:: DELINS
Alleles:: AG>- [Show Flanks]
Chromosome:: 3:196238795 (GRCh38)
3:195965666 (GRCh37)
Canonical SPDI:: NC_000003.12:196238792:AGAG:AG
Gene:: PCYT1A (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by cluster
MAF:: -=0.000004/1 (GnomAD_exomes)
-=0.000008/1 (ExAC)
HGVS:: NC_000003.12:g.196238793AG[1], NC_000003.11:g.195965664AG[1], NG_042817.1:g.53957CT[1], NM_005017.4:c.998_999del, NM_005017.3:c.998_999del, NM_005017.2:c.998_999del, NM_001312673.2:c.998_999del, NM_001312673.1:c.998_999del, NP_005008.2:p.Ser333fs, NP_001299602.1:p.Ser333fs

Select item 14822377072.

rs1482237707 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:196257811 (GRCh38)
3:195984682 (GRCh37)
Canonical SPDI:: NC_000003.12:196257810:T:C
Gene:: PCYT1A (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000016/4 (GnomAD_exomes)
HGVS:: NC_000003.12:g.196257811T>C, NC_000003.11:g.195984682T>C, NG_042817.1:g.34942A>G, NM_005017.4:c.194A>G, NM_005017.3:c.194A>G, NM_005017.2:c.194A>G, NM_001312673.2:c.194A>G, NM_001312673.1:c.194A>G, NP_005008.2:p.Glu65Gly, NP_001299602.1:p.Glu65Gly

Select item 14814363433.

rs1481436343 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 3:196257818 (GRCh38)
3:195984689 (GRCh37)
Canonical SPDI:: NC_000003.12:196257817:T:A
Gene:: PCYT1A (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.196257818T>A, NC_000003.11:g.195984689T>A, NG_042817.1:g.34935A>T, NM_005017.4:c.187A>T, NM_005017.3:c.187A>T, NM_005017.2:c.187A>T, NM_001312673.2:c.187A>T, NM_001312673.1:c.187A>T, NP_005008.2:p.Thr63Ser, NP_001299602.1:p.Thr63Ser

Select item 14799428904.

rs1479942890 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:196238807 (GRCh38)
3:195965678 (GRCh37)
Canonical SPDI:: NC_000003.12:196238806:A:G
Gene:: PCYT1A (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0./0 (GnomAD)
G=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.196238807A>G, NC_000003.11:g.195965678A>G, NG_042817.1:g.53946T>C, NM_005017.4:c.985T>C, NM_005017.3:c.985T>C, NM_005017.2:c.985T>C, NM_001312673.2:c.985T>C, NM_001312673.1:c.985T>C, NP_005008.2:p.Ser329Pro, NP_001299602.1:p.Ser329Pro

Select item 14773349715.

rs1477334971 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:196241981 (GRCh38)
3:195968852 (GRCh37)
Canonical SPDI:: NC_000003.12:196241980:G:A
Gene:: PCYT1A (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.196241981G>A, NC_000003.11:g.195968852G>A, NG_042817.1:g.50772C>T, NM_005017.4:c.675C>T, NM_005017.3:c.675C>T, NM_005017.2:c.675C>T, NM_001312673.2:c.675C>T, NM_001312673.1:c.675C>T

Select item 14680525486.

rs1468052548 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:196238755 (GRCh38)
3:195965626 (GRCh37)
Canonical SPDI:: NC_000003.12:196238754:C:T
Gene:: PCYT1A (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.196238755C>T, NC_000003.11:g.195965626C>T, NG_042817.1:g.53998G>A, NM_005017.4:c.1037G>A, NM_005017.3:c.1037G>A, NM_005017.2:c.1037G>A, NM_001312673.2:c.1037G>A, NM_001312673.1:c.1037G>A, NP_005008.2:p.Cys346Tyr, NP_001299602.1:p.Cys346Tyr

Select item 14668334157.

rs1466833415 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 3:196257844 (GRCh38)
3:195984715 (GRCh37)
Canonical SPDI:: NC_000003.12:196257843:T:C,NC_000003.12:196257843:T:G
Gene:: PCYT1A (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
HGVS:: NC_000003.12:g.196257844T>C, NC_000003.12:g.196257844T>G, NC_000003.11:g.195984715T>C, NC_000003.11:g.195984715T>G, NG_042817.1:g.34909A>G, NG_042817.1:g.34909A>C, NM_005017.4:c.161A>G, NM_005017.4:c.161A>C, NM_005017.3:c.161A>G, NM_005017.3:c.161A>C, NM_005017.2:c.161A>G, NM_005017.2:c.161A>C, NM_001312673.2:c.161A>G, NM_001312673.2:c.161A>C, NM_001312673.1:c.161A>G, NM_001312673.1:c.161A>C, NP_005008.2:p.Asp54Gly, NP_005008.2:p.Asp54Ala, NP_001299602.1:p.Asp54Gly, NP_001299602.1:p.Asp54Ala

Select item 14667147008.

rs1466714700 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:196239613 (GRCh38)
3:195966484 (GRCh37)
Canonical SPDI:: NC_000003.12:196239612:C:T
Gene:: PCYT1A (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000019/5 (TOPMED)
T=0.000029/4 (GnomAD)
HGVS:: NC_000003.12:g.196239613C>T, NC_000003.11:g.195966484C>T, NG_042817.1:g.53140G>A, NM_005017.4:c.831G>A, NM_005017.3:c.831G>A, NM_005017.2:c.831G>A, NM_001312673.2:c.831G>A, NM_001312673.1:c.831G>A

Select item 14553526489.

rs1455352648 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:196248276 (GRCh38)
3:195975147 (GRCh37)
Canonical SPDI:: NC_000003.12:196248275:G:A
Gene:: PCYT1A (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.196248276G>A, NC_000003.11:g.195975147G>A, NG_042817.1:g.44477C>T, NM_005017.4:c.265C>T, NM_005017.3:c.265C>T, NM_005017.2:c.265C>T, NM_001312673.2:c.265C>T, NM_001312673.1:c.265C>T, NP_005008.2:p.His89Tyr, NP_001299602.1:p.His89Tyr

Select item 145490280010.

rs1454902800 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 3:196248297 (GRCh38)
3:195975168 (GRCh37)
Canonical SPDI:: NC_000003.12:196248296:C:A
Gene:: PCYT1A (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.196248297C>A, NC_000003.11:g.195975168C>A, NG_042817.1:g.44456G>T, NM_005017.4:c.244G>T, NM_005017.3:c.244G>T, NM_005017.2:c.244G>T, NM_001312673.2:c.244G>T, NM_001312673.1:c.244G>T, NP_005008.2:p.Asp82Tyr, NP_001299602.1:p.Asp82Tyr

Select item 145202927011.

rs1452029270 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CAGCC [Show Flanks]
Chromosome:: 3:196238722 (GRCh38)
3:195965594 (GRCh37)
Canonical SPDI:: NC_000003.12:196238722:CAGCC:CAGCCCAGCC
Gene:: PCYT1A (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
HGVS:: NC_000003.12:g.196238723_196238727dup, NC_000003.11:g.195965594_195965598dup, NG_042817.1:g.54026_54030dup, NM_005017.4:c.1065_1069dup, NM_005017.3:c.1065_1069dup, NM_005017.2:c.1065_1069dup, NM_001312673.2:c.1065_1069dup, NM_001312673.1:c.1065_1069dup, NP_005008.2:p.Ala357fs, NP_001299602.1:p.Ala357fs

Select item 144238511412.

rs1442385114 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 3:196247512 (GRCh38)
3:195974383 (GRCh37)
Canonical SPDI:: NC_000003.12:196247511:C:A,NC_000003.12:196247511:C:G
Gene:: PCYT1A (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.00003/1 (ALFA)
HGVS:: NC_000003.12:g.196247512C>A, NC_000003.12:g.196247512C>G, NC_000003.11:g.195974383C>A, NC_000003.11:g.195974383C>G, NG_042817.1:g.45241G>T, NG_042817.1:g.45241G>C, NM_005017.4:c.341G>T, NM_005017.4:c.341G>C, NM_005017.3:c.341G>T, NM_005017.3:c.341G>C, NM_005017.2:c.341G>T, NM_005017.2:c.341G>C, NM_001312673.2:c.341G>T, NM_001312673.2:c.341G>C, NM_001312673.1:c.341G>T, NM_001312673.1:c.341G>C, NG_083253.1:g.838C>A, NG_083253.1:g.838C>G, NP_005008.2:p.Ser114Ile, NP_005008.2:p.Ser114Thr, NP_001299602.1:p.Ser114Ile, NP_001299602.1:p.Ser114Thr

Select item 143954297413.

rs1439542974 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 3:196239612 (GRCh38)
3:195966483 (GRCh37)
Canonical SPDI:: NC_000003.12:196239611:A:T
Gene:: PCYT1A (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000447/2 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000446/2 (Estonian)
HGVS:: NC_000003.12:g.196239612A>T, NC_000003.11:g.195966483A>T, NG_042817.1:g.53141T>A, NM_005017.4:c.832T>A, NM_005017.3:c.832T>A, NM_005017.2:c.832T>A, NM_001312673.2:c.832T>A, NM_001312673.1:c.832T>A, NP_005008.2:p.Trp278Arg, NP_001299602.1:p.Trp278Arg

Select item 143504991214.

rs1435049912 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:196238748 (GRCh38)
3:195965619 (GRCh37)
Canonical SPDI:: NC_000003.12:196238747:T:C
Gene:: PCYT1A (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000014/2 (GnomAD)
HGVS:: NC_000003.12:g.196238748T>C, NC_000003.11:g.195965619T>C, NG_042817.1:g.54005A>G, NM_005017.4:c.1044A>G, NM_005017.3:c.1044A>G, NM_005017.2:c.1044A>G, NM_001312673.2:c.1044A>G, NM_001312673.1:c.1044A>G

Select item 143499908415.

rs1434999084 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:196247373 (GRCh38)
3:195974244 (GRCh37)
Canonical SPDI:: NC_000003.12:196247372:T:C
Gene:: PCYT1A (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000066/1 (ALFA)
C=0./0 (GnomAD)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
C=0.000223/1 (Estonian)
HGVS:: NC_000003.12:g.196247373T>C, NC_000003.11:g.195974244T>C, NG_042817.1:g.45380A>G, NM_005017.4:c.480A>G, NM_005017.3:c.480A>G, NM_005017.2:c.480A>G, NM_001312673.2:c.480A>G, NM_001312673.1:c.480A>G, NG_083253.1:g.699T>C

Select item 143326572716.

rs1433265727 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 3:196247513 (GRCh38)
3:195974384 (GRCh37)
Canonical SPDI:: NC_000003.12:196247512:T:G
Gene:: PCYT1A (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.196247513T>G, NC_000003.11:g.195974384T>G, NG_042817.1:g.45240A>C, NM_005017.4:c.340A>C, NM_005017.3:c.340A>C, NM_005017.2:c.340A>C, NM_001312673.2:c.340A>C, NM_001312673.1:c.340A>C, NG_083253.1:g.839T>G, NP_005008.2:p.Ser114Arg, NP_001299602.1:p.Ser114Arg

Select item 142688756317.

rs1426887563 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 3:196270469 (GRCh38)
3:195997340 (GRCh37)
Canonical SPDI:: NC_000003.12:196270468:G:T
Gene:: PCYT1A (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000031/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.196270469G>T, NC_000003.11:g.195997340G>T, NG_042817.1:g.22284C>A, NM_005017.4:c.63C>A, NM_005017.3:c.63C>A, NM_005017.2:c.63C>A, NM_001312673.2:c.63C>A, NM_001312673.1:c.63C>A

Select item 142277801318.

rs1422778013 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 3:196248295 (GRCh38)
3:195975166 (GRCh37)
Canonical SPDI:: NC_000003.12:196248294:A:G,NC_000003.12:196248294:A:T
Gene:: PCYT1A (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.196248295A>G, NC_000003.12:g.196248295A>T, NC_000003.11:g.195975166A>G, NC_000003.11:g.195975166A>T, NG_042817.1:g.44458T>C, NG_042817.1:g.44458T>A, NM_005017.4:c.246T>C, NM_005017.4:c.246T>A, NM_005017.3:c.246T>C, NM_005017.3:c.246T>A, NM_005017.2:c.246T>C, NM_005017.2:c.246T>A, NM_001312673.2:c.246T>C, NM_001312673.2:c.246T>A, NM_001312673.1:c.246T>C, NM_001312673.1:c.246T>A, NP_005008.2:p.Asp82Glu, NP_001299602.1:p.Asp82Glu

Select item 142130058619.

rs1421300586 has merged into rs587777196 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 3:196238823 (GRCh38)
3:195965695 (GRCh37)
Canonical SPDI:: NC_000003.12:196238823:C:CC
Gene:: PCYT1A (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Clinical significance:: pathogenic,conflicting-interpretations-of-pathogenicity
Validated:: by frequency,by alfa,by cluster
MAF:: CC=0./0 (ALFA)
C=0.000005/1 (GnomAD_exomes)
C=0.000009/1 (ExAC)
C=0.000043/6 (GnomAD)
C=0.000064/17 (TOPMED)
HGVS:: NC_000003.12:g.196238824dup, NC_000003.11:g.195965695dup, NG_042817.1:g.53929dup, NM_005017.4:c.968dup, NM_005017.3:c.968dup, NM_005017.2:c.968dup, NM_001312673.2:c.968dup, NM_001312673.1:c.968dup, NP_005008.2:p.Ser323fs, NP_001299602.1:p.Ser323fs

Select item 141589073920.

rs1415890739 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:196239549 (GRCh38)
3:195966420 (GRCh37)
Canonical SPDI:: NC_000003.12:196239548:G:A
Gene:: PCYT1A (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.196239549G>A, NC_000003.11:g.195966420G>A, NG_042817.1:g.53204C>T, NM_005017.4:c.895C>T, NM_005017.3:c.895C>T, NM_005017.2:c.895C>T, NM_001312673.2:c.895C>T, NM_001312673.1:c.895C>T

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