Canonical Allele Identifier: CA223386118

Gene: CPT1A

Linked Data

• dbSNP Id: rs2229738
• MyVariant Identifiers: chr11:g.68562328C>G (hg19) ; chr11:g.68794860C>G (hg38)
• PubMed: PMID:11441142 ; PMID:20301700

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68794860C>G , CM000673.2:g.68794860C>G	GRCh38
NC_000011.9:g.68562328C>G , CM000673.1:g.68562328C>G	GRCh37
NC_000011.8:g.68318904C>G	NCBI36
NG_011801.1:g.52072G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000265641.10:c.823G>C MANE Select	ENSP00000265641.4:p.Ala275Pro
ENST00000265641.9:c.823G>C	ENSP00000265641.4:p.Ala275Pro
ENST00000376618.6:c.823G>C	ENSP00000365803.2:p.Ala275Pro
ENST00000538994.1:c.79G>C	ENSP00000454332.1:p.Ala27Pro
ENST00000539743.5:c.823G>C	ENSP00000446108.1:p.Ala275Pro
ENST00000540367.5:c.823G>C	ENSP00000439084.1:p.Ala275Pro
NM_001031847.2:c.823G>C	NP_001027017.1:p.Ala275Pro
NM_001876.3:c.823G>C	NP_001867.2:p.Ala275Pro
XM_005273762.1:c.919G>C	XP_005273819.1:p.Ala307Pro
XM_005273763.1:c.919G>C	XP_005273820.1:p.Ala307Pro
XM_005273762.3:c.919G>C	XP_005273819.1:p.Ala307Pro
XM_017017220.1:c.823G>C	XP_016872709.1:p.Ala275Pro
NM_001876.4:c.823G>C MANE Select	NP_001867.2:p.Ala275Pro
NM_001031847.3:c.823G>C	NP_001027017.1:p.Ala275Pro