Canonical Allele Identifier: CA1183091

Gene: SPTA1

Linked Data

• ClinVar Variation Id: 393151
• ClinVar RCV Id: RCV000443048 ; RCV001099386 ; RCV001099387 ; RCV001101374
• dbSNP Id: rs200230894
• ExAC: 1:158622275 C / G
• gnomAD v2: 1-158622275-C-G
• gnomAD v3: 1-158652485-C-G
• gnomAD v4: 1-158652485-C-G
• MyVariant Identifiers: chr1:g.158622275C>G (hg19) ; chr1:g.158652485C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.158652485C>G , CM000663.2:g.158652485C>G	GRCh38
NC_000001.10:g.158622275C>G , CM000663.1:g.158622275C>G	GRCh37
NC_000001.9:g.156888899C>G	NCBI36
NG_011474.1:g.39232G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000643759.2:c.3357G>C MANE Select	ENSP00000495214.1:p.Lys1119Asn
ENST00000368147.8:c.3357G>C	ENSP00000357129.4:p.Lys1119Asn
ENST00000614909.4:c.3357G>C	ENSP00000482595.1:p.Lys1119Asn
NM_003126.2:c.3357G>C	NP_003117.2:p.Lys1119Asn
XM_011509916.1:c.3357G>C	XP_011508218.1:p.Lys1119Asn
XM_011509917.1:c.3357G>C	XP_011508219.1:p.Lys1119Asn
XM_011509918.1:c.3357G>C	XP_011508220.1:p.Lys1119Asn
XM_011509919.1:c.3357G>C	XP_011508221.1:p.Lys1119Asn
XR_921911.1:n.3470G>C
XR_921912.1:n.3475G>C
NM_003126.3:c.3357G>C	NP_003117.2:p.Lys1119Asn
XM_011509916.2:c.3357G>C	XP_011508218.1:p.Lys1119Asn
XM_011509917.3:c.3357G>C	XP_011508219.1:p.Lys1119Asn
XM_011509918.3:c.3357G>C	XP_011508220.1:p.Lys1119Asn
XM_011509919.3:c.3357G>C	XP_011508221.1:p.Lys1119Asn
XR_921911.3:n.3483G>C
XR_921912.2:n.3485G>C
NM_003126.4:c.3357G>C MANE Select	NP_003117.2:p.Lys1119Asn