Canonical Allele Identifier: CA1183447

Gene: SPTA1

Linked Data

• ClinVar Variation Id: 293019
• ClinVar RCV Id: RCV000263914 ; RCV000319040 ; RCV000354020 ; RCV001508912
• dbSNP Id: rs118088187
• ExAC: 1:158632689 A / G
• gnomAD v2: 1-158632689-A-G
• gnomAD v3: 1-158662899-A-G
• gnomAD v4: 1-158662899-A-G
• MyVariant Identifiers: chr1:g.158632689A>G (hg19) ; chr1:g.158662899A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.158662899A>G , CM000663.2:g.158662899A>G	GRCh38
NC_000001.10:g.158632689A>G , CM000663.1:g.158632689A>G	GRCh37
NC_000001.9:g.156899313A>G	NCBI36
NG_011474.1:g.28818T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000643759.2:c.2267T>C MANE Select	ENSP00000495214.1:p.Ile756Thr
ENST00000368147.8:c.2267T>C	ENSP00000357129.4:p.Ile756Thr
ENST00000614909.4:c.2267T>C	ENSP00000482595.1:p.Ile756Thr
NM_003126.2:c.2267T>C	NP_003117.2:p.Ile756Thr
XM_011509916.1:c.2267T>C	XP_011508218.1:p.Ile756Thr
XM_011509917.1:c.2267T>C	XP_011508219.1:p.Ile756Thr
XM_011509918.1:c.2267T>C	XP_011508220.1:p.Ile756Thr
XM_011509919.1:c.2267T>C	XP_011508221.1:p.Ile756Thr
XR_921911.1:n.2380T>C
XR_921912.1:n.2385T>C
NM_003126.3:c.2267T>C	NP_003117.2:p.Ile756Thr
XM_011509916.2:c.2267T>C	XP_011508218.1:p.Ile756Thr
XM_011509917.3:c.2267T>C	XP_011508219.1:p.Ile756Thr
XM_011509918.3:c.2267T>C	XP_011508220.1:p.Ile756Thr
XM_011509919.3:c.2267T>C	XP_011508221.1:p.Ile756Thr
XR_921911.3:n.2393T>C
XR_921912.2:n.2395T>C
NM_003126.4:c.2267T>C MANE Select	NP_003117.2:p.Ile756Thr