Canonical Allele Identifier: CA1181738

Gene: SPTA1

Linked Data

• ClinVar Variation Id: 292937
• ClinVar RCV Id: RCV000304881 ; RCV000355023 ; RCV000398747 ; RCV001248301
• dbSNP Id: rs78598639
• ExAC: 1:158582673 T / G
• gnomAD v2: 1-158582673-T-G
• gnomAD v3: 1-158612883-T-G
• gnomAD v4: 1-158612883-T-G
• MyVariant Identifiers: chr1:g.158582673T>G (hg19) ; chr1:g.158612883T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.158612883T>G , CM000663.2:g.158612883T>G	GRCh38
NC_000001.10:g.158582673T>G , CM000663.1:g.158582673T>G	GRCh37
NC_000001.9:g.156849297T>G	NCBI36
NG_011474.1:g.78834A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000643759.2:c.7068A>C MANE Select	ENSP00000495214.1:p.Glu2356Asp
ENST00000368147.8:c.7068A>C	ENSP00000357129.4:p.Glu2356Asp
ENST00000481212.5:n.509A>C
ENST00000498708.1:n.500A>C
ENST00000614909.4:c.7068A>C	ENSP00000482595.1:p.Glu2356Asp
NM_003126.2:c.7068A>C	NP_003117.2:p.Glu2356Asp
XM_011509916.1:c.7068A>C	XP_011508218.1:p.Glu2356Asp
XM_011509917.1:c.7050A>C	XP_011508219.1:p.Glu2350Asp
NM_003126.3:c.7068A>C	NP_003117.2:p.Glu2356Asp
XM_011509916.2:c.7068A>C	XP_011508218.1:p.Glu2356Asp
XM_011509917.3:c.7050A>C	XP_011508219.1:p.Glu2350Asp
NM_003126.4:c.7068A>C MANE Select	NP_003117.2:p.Glu2356Asp