Canonical Allele Identifier: CA475181718
Gene: CPT1A HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.68527121A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68759653A>G , CM000673.2:g.68759653A>G GRCh38
NC_000011.9:g.68527121A>G , CM000673.1:g.68527121A>G GRCh37
NC_000011.8:g.68283697A>G NCBI36
NG_011801.1:g.87279T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000265641.10:c.2151T>C MANE Select ENSP00000265641.4:p.Asp717=
ENST00000265641.9:c.2151T>C ENSP00000265641.4:p.Asp717=
ENST00000376618.6:c.2151T>C ENSP00000365803.2:p.Asp717=
ENST00000539743.5:c.2151T>C ENSP00000446108.1:p.Asp717=
ENST00000540367.5:c.2151T>C ENSP00000439084.1:p.Asp717=
NM_001031847.2:c.2151T>C NP_001027017.1:p.Asp717=
NM_001876.3:c.2151T>C NP_001867.2:p.Asp717=
XM_005273762.1:c.2247T>C XP_005273819.1:p.Asp749=
XM_005273763.1:c.2247T>C XP_005273820.1:p.Asp749=
XM_005273762.3:c.2247T>C XP_005273819.1:p.Asp749=
XM_017017220.1:c.2151T>C XP_016872709.1:p.Asp717=
NM_001876.4:c.2151T>C MANE Select NP_001867.2:p.Asp717=
NM_001031847.3:c.2151T>C NP_001027017.1:p.Asp717=