Canonical Allele Identifier: CA343009073

Gene: SPTA1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.158669541A>G , CM000663.2:g.158669541A>G	GRCh38
NC_000001.10:g.158639331A>G , CM000663.1:g.158639331A>G	GRCh37
NC_000001.9:g.156905955A>G	NCBI36
NG_011474.1:g.22176T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_003126.4:c.1700T>C MANE Select	NP_003117.2:p.Leu567Pro
ENST00000643759.2:c.1700T>C MANE Select	ENSP00000495214.1:p.Leu567Pro
NM_003126.2:c.1700T>C	NP_003117.2:p.Leu567Pro
NM_003126.3:c.1700T>C	NP_003117.2:p.Leu567Pro
ENST00000368147.8:c.1700T>C	ENSP00000357129.4:p.Leu567Pro
ENST00000614909.4:c.1700T>C	ENSP00000482595.1:p.Leu567Pro
XM_011509916.1:c.1700T>C	XP_011508218.1:p.Leu567Pro
XM_011509916.2:c.1700T>C	XP_011508218.1:p.Leu567Pro
XM_011509917.1:c.1700T>C	XP_011508219.1:p.Leu567Pro
XM_011509917.3:c.1700T>C	XP_011508219.1:p.Leu567Pro
XM_011509918.1:c.1700T>C	XP_011508220.1:p.Leu567Pro
XM_011509918.3:c.1700T>C	XP_011508220.1:p.Leu567Pro
XM_011509919.1:c.1700T>C	XP_011508221.1:p.Leu567Pro
XM_011509919.3:c.1700T>C	XP_011508221.1:p.Leu567Pro
XR_921911.1:n.1813T>C
XR_921911.3:n.1826T>C
XR_921912.1:n.1818T>C
XR_921912.2:n.1828T>C