Canonical Allele Identifier: CA381630135
Gene: CPT1A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68775429C>G , CM000673.2:g.68775429C>G GRCh38
NC_000011.9:g.68542897C>G , CM000673.1:g.68542897C>G GRCh37
NC_000011.8:g.68299473C>G NCBI36
NG_011801.1:g.71503G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000265641.10:c.1462G>C MANE Select ENSP00000265641.4:p.Val488Leu
ENST00000265641.9:c.1462G>C ENSP00000265641.4:p.Val488Leu
ENST00000376618.6:c.1462G>C ENSP00000365803.2:p.Val488Leu
ENST00000539743.5:c.1462G>C ENSP00000446108.1:p.Val488Leu
ENST00000540367.5:c.1462G>C ENSP00000439084.1:p.Val488Leu
NM_001031847.2:c.1462G>C NP_001027017.1:p.Val488Leu
NM_001876.3:c.1462G>C NP_001867.2:p.Val488Leu
XM_005273762.1:c.1558G>C XP_005273819.1:p.Val520Leu
XM_005273763.1:c.1558G>C XP_005273820.1:p.Val520Leu
XM_005273762.3:c.1558G>C XP_005273819.1:p.Val520Leu
XM_017017220.1:c.1462G>C XP_016872709.1:p.Val488Leu
NM_001876.4:c.1462G>C MANE Select NP_001867.2:p.Val488Leu
NM_001031847.3:c.1462G>C NP_001027017.1:p.Val488Leu