Canonical Allele Identifier: CA1183064

Gene: SPTA1

Linked Data

• ClinVar Variation Id: 292994
• ClinVar RCV Id: RCV000293245 ; RCV000350472 ; RCV000389358 ; RCV001812777
• dbSNP Id: rs35733059
• ExAC: 1:158621236 C / G
• gnomAD v2: 1-158621236-C-G
• gnomAD v3: 1-158651446-C-G
• gnomAD v4: 1-158651446-C-G
• MyVariant Identifiers: chr1:g.158621236C>G (hg19) ; chr1:g.158651446C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.158651446C>G , CM000663.2:g.158651446C>G	GRCh38
NC_000001.10:g.158621236C>G , CM000663.1:g.158621236C>G	GRCh37
NC_000001.9:g.156887860C>G	NCBI36
NG_011474.1:g.40271G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000643759.2:c.3398G>C MANE Select	ENSP00000495214.1:p.Arg1133Pro
ENST00000368147.8:c.3398G>C	ENSP00000357129.4:p.Arg1133Pro
ENST00000614909.4:c.3398G>C	ENSP00000482595.1:p.Arg1133Pro
NM_003126.2:c.3398G>C	NP_003117.2:p.Arg1133Pro
XM_011509916.1:c.3398G>C	XP_011508218.1:p.Arg1133Pro
XM_011509917.1:c.3398G>C	XP_011508219.1:p.Arg1133Pro
XM_011509918.1:c.3398G>C	XP_011508220.1:p.Arg1133Pro
XM_011509919.1:c.3398G>C	XP_011508221.1:p.Arg1133Pro
XR_921911.1:n.3511G>C
XR_921912.1:n.3516G>C
NM_003126.3:c.3398G>C	NP_003117.2:p.Arg1133Pro
XM_011509916.2:c.3398G>C	XP_011508218.1:p.Arg1133Pro
XM_011509917.3:c.3398G>C	XP_011508219.1:p.Arg1133Pro
XM_011509918.3:c.3398G>C	XP_011508220.1:p.Arg1133Pro
XM_011509919.3:c.3398G>C	XP_011508221.1:p.Arg1133Pro
XR_921911.3:n.3524G>C
XR_921912.2:n.3526G>C
NM_003126.4:c.3398G>C MANE Select	NP_003117.2:p.Arg1133Pro