Canonical Allele Identifier: CA381635187

Gene: CPT1A

Linked Data

• MyVariant Identifiers: chr11:g.68566696G>A (hg19) ; chr11:g.68799228G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68799228G>A , CM000673.2:g.68799228G>A	GRCh38
NC_000011.9:g.68566696G>A , CM000673.1:g.68566696G>A	GRCh37
NC_000011.8:g.68323272G>A	NCBI36
NG_011801.1:g.47704C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265641.10:c.683C>T MANE Select	ENSP00000265641.4:p.Ala228Val
ENST00000265641.9:c.683C>T	ENSP00000265641.4:p.Ala228Val
ENST00000376618.6:c.683C>T	ENSP00000365803.2:p.Ala228Val
ENST00000538994.1:c.-62C>T	ENSP00000454332.1:n.-62C>T
ENST00000539743.5:c.683C>T	ENSP00000446108.1:p.Ala228Val
ENST00000540367.5:c.683C>T	ENSP00000439084.1:p.Ala228Val
NM_001031847.2:c.683C>T	NP_001027017.1:p.Ala228Val
NM_001876.3:c.683C>T	NP_001867.2:p.Ala228Val
XM_005273762.1:c.779C>T	XP_005273819.1:p.Ala260Val
XM_005273763.1:c.779C>T	XP_005273820.1:p.Ala260Val
XM_005273762.3:c.779C>T	XP_005273819.1:p.Ala260Val
XM_017017220.1:c.683C>T	XP_016872709.1:p.Ala228Val
NM_001876.4:c.683C>T MANE Select	NP_001867.2:p.Ala228Val
NM_001031847.3:c.683C>T	NP_001027017.1:p.Ala228Val