Canonical Allele Identifier: CA1181740

Gene: SPTA1

Linked Data

• dbSNP Id: rs751315116
• ExAC: 1:158582685 C / G
• gnomAD v2: 1-158582685-C-G
• gnomAD v4: 1-158612895-C-G
• MyVariant Identifiers: chr1:g.158582685C>G (hg19) ; chr1:g.158612895C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.158612895C>G , CM000663.2:g.158612895C>G	GRCh38
NC_000001.10:g.158582685C>G , CM000663.1:g.158582685C>G	GRCh37
NC_000001.9:g.156849309C>G	NCBI36
NG_011474.1:g.78822G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000643759.2:c.7056G>C MANE Select	ENSP00000495214.1:p.Lys2352Asn
ENST00000368147.8:c.7056G>C	ENSP00000357129.4:p.Lys2352Asn
ENST00000481212.5:n.497G>C
ENST00000498708.1:n.488G>C
ENST00000614909.4:c.7056G>C	ENSP00000482595.1:p.Lys2352Asn
NM_003126.2:c.7056G>C	NP_003117.2:p.Lys2352Asn
XM_011509916.1:c.7056G>C	XP_011508218.1:p.Lys2352Asn
XM_011509917.1:c.7038G>C	XP_011508219.1:p.Lys2346Asn
NM_003126.3:c.7056G>C	NP_003117.2:p.Lys2352Asn
XM_011509916.2:c.7056G>C	XP_011508218.1:p.Lys2352Asn
XM_011509917.3:c.7038G>C	XP_011508219.1:p.Lys2346Asn
NM_003126.4:c.7056G>C MANE Select	NP_003117.2:p.Lys2352Asn