Canonical Allele Identifier: CA1182545

Gene: SPTA1

Linked Data

• ClinVar Variation Id: 292980
• ClinVar RCV Id: RCV000264359 ; RCV000328774 ; RCV000377905 ; RCV000898683
• dbSNP Id: rs145288947
• ExAC: 1:158609702 C / T
• gnomAD v2: 1-158609702-C-T
• gnomAD v3: 1-158639912-C-T
• gnomAD v4: 1-158639912-C-T
• MyVariant Identifiers: chr1:g.158609702C>T (hg19) ; chr1:g.158639912C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.158639912C>T , CM000663.2:g.158639912C>T	GRCh38
NC_000001.10:g.158609702C>T , CM000663.1:g.158609702C>T	GRCh37
NC_000001.9:g.156876326C>T	NCBI36
NG_011474.1:g.51805G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000643759.2:c.4833G>A MANE Select	ENSP00000495214.1:p.Arg1611=
ENST00000368147.8:c.4833G>A	ENSP00000357129.4:p.Arg1611=
ENST00000465741.1:n.218G>A
ENST00000614909.4:c.4833G>A	ENSP00000482595.1:p.Arg1611=
NM_003126.2:c.4833G>A	NP_003117.2:p.Arg1611=
XM_011509916.1:c.4833G>A	XP_011508218.1:p.Arg1611=
XM_011509917.1:c.4833G>A	XP_011508219.1:p.Arg1611=
XM_011509918.1:c.4833G>A	XP_011508220.1:p.Arg1611=
XM_011509919.1:c.4833G>A	XP_011508221.1:p.Arg1611=
XR_921911.1:n.4946G>A
XR_921912.1:n.5021G>A
NM_003126.3:c.4833G>A	NP_003117.2:p.Arg1611=
XM_011509916.2:c.4833G>A	XP_011508218.1:p.Arg1611=
XM_011509917.3:c.4833G>A	XP_011508219.1:p.Arg1611=
XM_011509918.3:c.4833G>A	XP_011508220.1:p.Arg1611=
XM_011509919.3:c.4833G>A	XP_011508221.1:p.Arg1611=
XR_921911.3:n.4959G>A
XR_921912.2:n.5031G>A
NM_003126.4:c.4833G>A MANE Select	NP_003117.2:p.Arg1611=