Canonical Allele Identifier: CA381625681
Gene: CPT1A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68759640C>A , CM000673.2:g.68759640C>A GRCh38
NC_000011.9:g.68527108C>A , CM000673.1:g.68527108C>A GRCh37
NC_000011.8:g.68283684C>A NCBI36
NG_011801.1:g.87292G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000265641.10:c.2164G>T MANE Select ENSP00000265641.4:p.Val722Leu
ENST00000265641.9:c.2164G>T ENSP00000265641.4:p.Val722Leu
ENST00000376618.6:c.2164G>T ENSP00000365803.2:p.Val722Leu
ENST00000539743.5:c.2164G>T ENSP00000446108.1:p.Val722Leu
ENST00000540367.5:c.2164G>T ENSP00000439084.1:p.Val722Leu
NM_001031847.2:c.2164G>T NP_001027017.1:p.Val722Leu
NM_001876.3:c.2164G>T NP_001867.2:p.Val722Leu
XM_005273762.1:c.2260G>T XP_005273819.1:p.Val754Leu
XM_005273763.1:c.2260G>T XP_005273820.1:p.Val754Leu
XM_005273762.3:c.2260G>T XP_005273819.1:p.Val754Leu
XM_017017220.1:c.2164G>T XP_016872709.1:p.Val722Leu
NM_001876.4:c.2164G>T MANE Select NP_001867.2:p.Val722Leu
NM_001031847.3:c.2164G>T NP_001027017.1:p.Val722Leu