Canonical Allele Identifier: CA1181797

Gene: SPTA1

Linked Data

• ClinVar Variation Id: 292943
• ClinVar RCV Id: RCV000296895 ; RCV000338302 ; RCV000402406 ; RCV000903571
• dbSNP Id: rs138732899
• ExAC: 1:158583650 C / T
• gnomAD v2: 1-158583650-C-T
• gnomAD v3: 1-158613860-C-T
• gnomAD v4: 1-158613860-C-T
• MyVariant Identifiers: chr1:g.158583650C>T (hg19) ; chr1:g.158583650_158583652delinsTAA (hg19) ; chr1:g.158613860C>T (hg38) ; chr1:g.158613860_158613862delinsTAA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.158613860C>T , CM000663.2:g.158613860C>T	GRCh38
NC_000001.10:g.158583650C>T , CM000663.1:g.158583650C>T	GRCh37
NC_000001.9:g.156850274C>T	NCBI36
NG_011474.1:g.77857G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000643759.2:c.6850G>A MANE Select	ENSP00000495214.1:p.Asp2284Asn
ENST00000368147.8:c.6850G>A	ENSP00000357129.4:p.Asp2284Asn
ENST00000481212.5:n.291G>A
ENST00000498708.1:n.282G>A
ENST00000614909.4:c.6850G>A	ENSP00000482595.1:p.Asp2284Asn
NM_003126.2:c.6850G>A	NP_003117.2:p.Asp2284Asn
XM_011509916.1:c.6850G>A	XP_011508218.1:p.Asp2284Asn
XM_011509917.1:c.6832G>A	XP_011508219.1:p.Asp2278Asn
NM_003126.3:c.6850G>A	NP_003117.2:p.Asp2284Asn
XM_011509916.2:c.6850G>A	XP_011508218.1:p.Asp2284Asn
XM_011509917.3:c.6832G>A	XP_011508219.1:p.Asp2278Asn
NM_003126.4:c.6850G>A MANE Select	NP_003117.2:p.Asp2284Asn