Canonical Allele Identifier: CA303058

Gene: CPT1A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68794860C>T , CM000673.2:g.68794860C>T	GRCh38
NC_000011.9:g.68562328C>T , CM000673.1:g.68562328C>T	GRCh37
NC_000011.8:g.68318904C>T	NCBI36
NG_011801.1:g.52072G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001876.4:c.823G>A MANE Select	NP_001867.2:p.Ala275Thr
ENST00000265641.10:c.823G>A MANE Select	ENSP00000265641.4:p.Ala275Thr
NM_001031847.2:c.823G>A	NP_001027017.1:p.Ala275Thr
NM_001031847.3:c.823G>A	NP_001027017.1:p.Ala275Thr
NM_001876.3:c.823G>A	NP_001867.2:p.Ala275Thr
ENST00000265641.9:c.823G>A	ENSP00000265641.4:p.Ala275Thr
ENST00000376618.6:c.823G>A	ENSP00000365803.2:p.Ala275Thr
ENST00000538994.1:c.79G>A	ENSP00000454332.1:p.Ala27Thr
ENST00000539743.5:c.823G>A	ENSP00000446108.1:p.Ala275Thr
ENST00000540367.5:c.823G>A	ENSP00000439084.1:p.Ala275Thr
XM_005273762.1:c.919G>A	XP_005273819.1:p.Ala307Thr
XM_005273762.3:c.919G>A	XP_005273819.1:p.Ala307Thr
XM_005273763.1:c.919G>A	XP_005273820.1:p.Ala307Thr
XM_017017220.1:c.823G>A	XP_016872709.1:p.Ala275Thr