Canonical Allele Identifier: CA1183155

Gene: SPTA1

Linked Data

• ClinVar Variation Id: 292999
• ClinVar RCV Id: RCV000275888 ; RCV000333458 ; RCV000385681 ; RCV000963777 ; RCV004549641 ; RCV004021366
• dbSNP Id: rs188875641
• ExAC: 1:158623085 C / A
• gnomAD v2: 1-158623085-C-A
• gnomAD v3: 1-158653295-C-A
• gnomAD v4: 1-158653295-C-A
• MyVariant Identifiers: chr1:g.158623085C>A (hg19) ; chr1:g.158653295C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.158653295C>A , CM000663.2:g.158653295C>A	GRCh38
NC_000001.10:g.158623085C>A , CM000663.1:g.158623085C>A	GRCh37
NC_000001.9:g.156889709C>A	NCBI36
NG_011474.1:g.38422G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000643759.2:c.3167G>T MANE Select	ENSP00000495214.1:p.Arg1056Leu
ENST00000368147.8:c.3167G>T	ENSP00000357129.4:p.Arg1056Leu
ENST00000614909.4:c.3167G>T	ENSP00000482595.1:p.Arg1056Leu
NM_003126.2:c.3167G>T	NP_003117.2:p.Arg1056Leu
XM_011509916.1:c.3167G>T	XP_011508218.1:p.Arg1056Leu
XM_011509917.1:c.3167G>T	XP_011508219.1:p.Arg1056Leu
XM_011509918.1:c.3167G>T	XP_011508220.1:p.Arg1056Leu
XM_011509919.1:c.3167G>T	XP_011508221.1:p.Arg1056Leu
XR_921911.1:n.3280G>T
XR_921912.1:n.3285G>T
NM_003126.3:c.3167G>T	NP_003117.2:p.Arg1056Leu
XM_011509916.2:c.3167G>T	XP_011508218.1:p.Arg1056Leu
XM_011509917.3:c.3167G>T	XP_011508219.1:p.Arg1056Leu
XM_011509918.3:c.3167G>T	XP_011508220.1:p.Arg1056Leu
XM_011509919.3:c.3167G>T	XP_011508221.1:p.Arg1056Leu
XR_921911.3:n.3293G>T
XR_921912.2:n.3295G>T
NM_003126.4:c.3167G>T MANE Select	NP_003117.2:p.Arg1056Leu