Canonical Allele Identifier: CA1182681

Gene: SPTA1

Linked Data

• ClinVar Variation Id: 258938
• ClinVar RCV Id: RCV000254479 ; RCV000273231 ; RCV000328386 ; RCV000364331 ; RCV000755398
• dbSNP Id: rs34973695
• ExAC: 1:158612756 G / A
• gnomAD v2: 1-158612756-G-A
• gnomAD v3: 1-158642966-G-A
• gnomAD v4: 1-158642966-G-A
• MyVariant Identifiers: chr1:g.158612756G>A (hg19) ; chr1:g.158642966G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.158642966G>A , CM000663.2:g.158642966G>A	GRCh38
NC_000001.10:g.158612756G>A , CM000663.1:g.158612756G>A	GRCh37
NC_000001.9:g.156879380G>A	NCBI36
NG_011474.1:g.48751C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000643759.2:c.4453C>T MANE Select	ENSP00000495214.1:p.Leu1485Phe
ENST00000368147.8:c.4453C>T	ENSP00000357129.4:p.Leu1485Phe
ENST00000614909.4:c.4453C>T	ENSP00000482595.1:p.Leu1485Phe
NM_003126.2:c.4453C>T	NP_003117.2:p.Leu1485Phe
XM_011509916.1:c.4453C>T	XP_011508218.1:p.Leu1485Phe
XM_011509917.1:c.4453C>T	XP_011508219.1:p.Leu1485Phe
XM_011509918.1:c.4453C>T	XP_011508220.1:p.Leu1485Phe
XM_011509919.1:c.4453C>T	XP_011508221.1:p.Leu1485Phe
XR_921911.1:n.4566C>T
XR_921912.1:n.4641C>T
NM_003126.3:c.4453C>T	NP_003117.2:p.Leu1485Phe
XM_011509916.2:c.4453C>T	XP_011508218.1:p.Leu1485Phe
XM_011509917.3:c.4453C>T	XP_011508219.1:p.Leu1485Phe
XM_011509918.3:c.4453C>T	XP_011508220.1:p.Leu1485Phe
XM_011509919.3:c.4453C>T	XP_011508221.1:p.Leu1485Phe
XR_921911.3:n.4579C>T
XR_921912.2:n.4651C>T
NM_003126.4:c.4453C>T MANE Select	NP_003117.2:p.Leu1485Phe