Canonical Allele Identifier: CA475203600
Gene: CPT1A HGNC NCBI

Linked Data

dbSNP Id: rs1855712290
MyVariant Identifiers: chr11:g.68562275T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68794807T>C , CM000673.2:g.68794807T>C GRCh38
NC_000011.9:g.68562275T>C , CM000673.1:g.68562275T>C GRCh37
NC_000011.8:g.68318851T>C NCBI36
NG_011801.1:g.52125A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000265641.10:c.876A>G MANE Select ENSP00000265641.4:p.Lys292=
ENST00000265641.9:c.876A>G ENSP00000265641.4:p.Lys292=
ENST00000376618.6:c.876A>G ENSP00000365803.2:p.Lys292=
ENST00000538994.1:c.132A>G ENSP00000454332.1:p.Lys44=
ENST00000539743.5:c.876A>G ENSP00000446108.1:p.Lys292=
ENST00000540367.5:c.876A>G ENSP00000439084.1:p.Lys292=
NM_001031847.2:c.876A>G NP_001027017.1:p.Lys292=
NM_001876.3:c.876A>G NP_001867.2:p.Lys292=
XM_005273762.1:c.972A>G XP_005273819.1:p.Lys324=
XM_005273763.1:c.972A>G XP_005273820.1:p.Lys324=
XM_005273762.3:c.972A>G XP_005273819.1:p.Lys324=
XM_017017220.1:c.876A>G XP_016872709.1:p.Lys292=
NM_001876.4:c.876A>G MANE Select NP_001867.2:p.Lys292=
NM_001031847.3:c.876A>G NP_001027017.1:p.Lys292=