Canonical Allele Identifier: CA1181728

Gene: SPTA1

Linked Data

• ClinVar Variation Id: 292936
• ClinVar RCV Id: RCV000288553 ; RCV000348228 ; RCV000381859 ; RCV000756704 ; RCV002465612 ; RCV004549636
• dbSNP Id: rs112884419
• ExAC: 1:158582637 C / A
• gnomAD v2: 1-158582637-C-A
• gnomAD v3: 1-158612847-C-A
• gnomAD v4: 1-158612847-C-A
• MyVariant Identifiers: chr1:g.158582637C>A (hg19) ; chr1:g.158612847C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.158612847C>A , CM000663.2:g.158612847C>A	GRCh38
NC_000001.10:g.158582637C>A , CM000663.1:g.158582637C>A	GRCh37
NC_000001.9:g.156849261C>A	NCBI36
NG_011474.1:g.78870G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000643759.2:c.7104G>T MANE Select	ENSP00000495214.1:p.Lys2368Asn
ENST00000368147.8:c.7104G>T	ENSP00000357129.4:p.Lys2368Asn
ENST00000481212.5:n.545G>T
ENST00000498708.1:n.536G>T
ENST00000614909.4:c.7104G>T	ENSP00000482595.1:p.Lys2368Asn
NM_003126.2:c.7104G>T	NP_003117.2:p.Lys2368Asn
XM_011509916.1:c.7104G>T	XP_011508218.1:p.Lys2368Asn
XM_011509917.1:c.7086G>T	XP_011508219.1:p.Lys2362Asn
NM_003126.3:c.7104G>T	NP_003117.2:p.Lys2368Asn
XM_011509916.2:c.7104G>T	XP_011508218.1:p.Lys2368Asn
XM_011509917.3:c.7086G>T	XP_011508219.1:p.Lys2362Asn
NM_003126.4:c.7104G>T MANE Select	NP_003117.2:p.Lys2368Asn