Canonical Allele Identifier: CA1181790

Gene: SPTA1

Linked Data

• ClinVar Variation Id: 292940
• ClinVar RCV Id: RCV000276563 ; RCV000326856 ; RCV000384468 ; RCV002522060 ; RCV004021362
• dbSNP Id: rs375016862
• ExAC: 1:158583611 G / A
• gnomAD v2: 1-158583611-G-A
• gnomAD v3: 1-158613821-G-A
• gnomAD v4: 1-158613821-G-A
• MyVariant Identifiers: chr1:g.158583611G>A (hg19) ; chr1:g.158613821G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.158613821G>A , CM000663.2:g.158613821G>A	GRCh38
NC_000001.10:g.158583611G>A , CM000663.1:g.158583611G>A	GRCh37
NC_000001.9:g.156850235G>A	NCBI36
NG_011474.1:g.77896C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000643759.2:c.6889C>T MANE Select	ENSP00000495214.1:p.Arg2297Trp
ENST00000368147.8:c.6889C>T	ENSP00000357129.4:p.Arg2297Trp
ENST00000481212.5:n.330C>T
ENST00000498708.1:n.321C>T
ENST00000614909.4:c.6889C>T	ENSP00000482595.1:p.Arg2297Trp
NM_003126.2:c.6889C>T	NP_003117.2:p.Arg2297Trp
XM_011509916.1:c.6889C>T	XP_011508218.1:p.Arg2297Trp
XM_011509917.1:c.6871C>T	XP_011508219.1:p.Arg2291Trp
NM_003126.3:c.6889C>T	NP_003117.2:p.Arg2297Trp
XM_011509916.2:c.6889C>T	XP_011508218.1:p.Arg2297Trp
XM_011509917.3:c.6871C>T	XP_011508219.1:p.Arg2291Trp
NM_003126.4:c.6889C>T MANE Select	NP_003117.2:p.Arg2297Trp