Canonical Allele Identifier: CA475207252
Gene: CPT1A HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.68574950G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68807482G>T , CM000673.2:g.68807482G>T GRCh38
NC_000011.9:g.68574950G>T , CM000673.1:g.68574950G>T GRCh37
NC_000011.8:g.68331526G>T NCBI36
NG_011801.1:g.39450C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000265641.10:c.438C>A MANE Select ENSP00000265641.4:p.Ala146=
ENST00000265641.9:c.438C>A ENSP00000265641.4:p.Ala146=
ENST00000376618.6:c.438C>A ENSP00000365803.2:p.Ala146=
ENST00000539743.5:c.438C>A ENSP00000446108.1:p.Ala146=
ENST00000540367.5:c.438C>A ENSP00000439084.1:p.Ala146=
NM_001031847.2:c.438C>A NP_001027017.1:p.Ala146=
NM_001876.3:c.438C>A NP_001867.2:p.Ala146=
XM_005273762.1:c.534C>A XP_005273819.1:p.Ala178=
XM_005273763.1:c.534C>A XP_005273820.1:p.Ala178=
XM_005273762.3:c.534C>A XP_005273819.1:p.Ala178=
XM_017017220.1:c.438C>A XP_016872709.1:p.Ala146=
NM_001876.4:c.438C>A MANE Select NP_001867.2:p.Ala146=
NM_001031847.3:c.438C>A NP_001027017.1:p.Ala146=