Canonical Allele Identifier: CA475204763
Gene: CPT1A HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.68566695A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68799227A>C , CM000673.2:g.68799227A>C GRCh38
NC_000011.9:g.68566695A>C , CM000673.1:g.68566695A>C GRCh37
NC_000011.8:g.68323271A>C NCBI36
NG_011801.1:g.47705T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000265641.10:c.684T>G MANE Select ENSP00000265641.4:p.Ala228=
ENST00000265641.9:c.684T>G ENSP00000265641.4:p.Ala228=
ENST00000376618.6:c.684T>G ENSP00000365803.2:p.Ala228=
ENST00000538994.1:c.-61T>G ENSP00000454332.1:n.-61T>G
ENST00000539743.5:c.684T>G ENSP00000446108.1:p.Ala228=
ENST00000540367.5:c.684T>G ENSP00000439084.1:p.Ala228=
NM_001031847.2:c.684T>G NP_001027017.1:p.Ala228=
NM_001876.3:c.684T>G NP_001867.2:p.Ala228=
XM_005273762.1:c.780T>G XP_005273819.1:p.Ala260=
XM_005273763.1:c.780T>G XP_005273820.1:p.Ala260=
XM_005273762.3:c.780T>G XP_005273819.1:p.Ala260=
XM_017017220.1:c.684T>G XP_016872709.1:p.Ala228=
NM_001876.4:c.684T>G MANE Select NP_001867.2:p.Ala228=
NM_001031847.3:c.684T>G NP_001027017.1:p.Ala228=