Canonical Allele Identifier: CA344984
Gene: CPT1A HGNC NCBI

Linked Data

ClinVar Variation Id: 65654
ClinVar RCV Id: RCV000694487
dbSNP Id: rs80356782

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68804077G>A , CM000673.2:g.68804077G>A GRCh38
NC_000011.9:g.68571545G>A , CM000673.1:g.68571545G>A GRCh37
NC_000011.8:g.68328121G>A NCBI36
NG_011801.1:g.42855C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000265641.10:c.478C>T MANE Select ENSP00000265641.4:p.Arg160Ter
ENST00000265641.9:c.478C>T ENSP00000265641.4:p.Arg160Ter
ENST00000376618.6:c.478C>T ENSP00000365803.2:p.Arg160Ter
ENST00000539743.5:c.478C>T ENSP00000446108.1:p.Arg160Ter
ENST00000540367.5:c.478C>T ENSP00000439084.1:p.Arg160Ter
NM_001031847.2:c.478C>T NP_001027017.1:p.Arg160Ter
NM_001876.3:c.478C>T NP_001867.2:p.Arg160Ter
XM_005273762.1:c.574C>T XP_005273819.1:p.Arg192Ter
XM_005273763.1:c.574C>T XP_005273820.1:p.Arg192Ter
XM_005273762.3:c.574C>T XP_005273819.1:p.Arg192Ter
XM_017017220.1:c.478C>T XP_016872709.1:p.Arg160Ter
NM_001876.4:c.478C>T MANE Select NP_001867.2:p.Arg160Ter
NM_001031847.3:c.478C>T NP_001027017.1:p.Arg160Ter