Canonical Allele Identifier: CA343020460

Gene: SPTA1

Linked Data

• ClinVar Variation Id: 1163757
• ClinVar RCV Id: RCV001509083 ; RCV002291000
• dbSNP Id: rs2101942740
• MyVariant Identifiers: chr1:g.158650391A>T (hg19) ; chr1:g.158680601A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.158680601A>T , CM000663.2:g.158680601A>T	GRCh38
NC_000001.10:g.158650391A>T , CM000663.1:g.158650391A>T	GRCh37
NC_000001.9:g.156917015A>T	NCBI36
NG_011474.1:g.11116T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000643759.2:c.660T>A MANE Select	ENSP00000495214.1:p.Tyr220Ter
ENST00000368147.8:c.660T>A	ENSP00000357129.4:p.Tyr220Ter
ENST00000467387.1:c.133-2067T>A	ENSP00000476485.1:n.133-2067T>A
ENST00000614909.4:c.660T>A	ENSP00000482595.1:p.Tyr220Ter
NM_003126.2:c.660T>A	NP_003117.2:p.Tyr220Ter
XM_011509916.1:c.660T>A	XP_011508218.1:p.Tyr220Ter
XM_011509917.1:c.660T>A	XP_011508219.1:p.Tyr220Ter
XM_011509918.1:c.660T>A	XP_011508220.1:p.Tyr220Ter
XM_011509919.1:c.660T>A	XP_011508221.1:p.Tyr220Ter
XR_921911.1:n.773T>A
XR_921912.1:n.778T>A
NM_003126.3:c.660T>A	NP_003117.2:p.Tyr220Ter
XM_011509916.2:c.660T>A	XP_011508218.1:p.Tyr220Ter
XM_011509917.3:c.660T>A	XP_011508219.1:p.Tyr220Ter
XM_011509918.3:c.660T>A	XP_011508220.1:p.Tyr220Ter
XM_011509919.3:c.660T>A	XP_011508221.1:p.Tyr220Ter
XR_921911.3:n.786T>A
XR_921912.2:n.788T>A
NM_003126.4:c.660T>A MANE Select	NP_003117.2:p.Tyr220Ter