Canonical Allele Identifier: CA381634434

Gene: CPT1A

Linked Data

• MyVariant Identifiers: chr11:g.68562273G>A (hg19) ; chr11:g.68794805G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68794805G>A , CM000673.2:g.68794805G>A	GRCh38
NC_000011.9:g.68562273G>A , CM000673.1:g.68562273G>A	GRCh37
NC_000011.8:g.68318849G>A	NCBI36
NG_011801.1:g.52127C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000265641.10:c.878C>T MANE Select	ENSP00000265641.4:p.Pro293Leu
ENST00000265641.9:c.878C>T	ENSP00000265641.4:p.Pro293Leu
ENST00000376618.6:c.878C>T	ENSP00000365803.2:p.Pro293Leu
ENST00000538994.1:c.134C>T	ENSP00000454332.1:p.Pro45Leu
ENST00000539743.5:c.878C>T	ENSP00000446108.1:p.Pro293Leu
ENST00000540367.5:c.878C>T	ENSP00000439084.1:p.Pro293Leu
NM_001031847.2:c.878C>T	NP_001027017.1:p.Pro293Leu
NM_001876.3:c.878C>T	NP_001867.2:p.Pro293Leu
XM_005273762.1:c.974C>T	XP_005273819.1:p.Pro325Leu
XM_005273763.1:c.974C>T	XP_005273820.1:p.Pro325Leu
XM_005273762.3:c.974C>T	XP_005273819.1:p.Pro325Leu
XM_017017220.1:c.878C>T	XP_016872709.1:p.Pro293Leu
NM_001876.4:c.878C>T MANE Select	NP_001867.2:p.Pro293Leu
NM_001031847.3:c.878C>T	NP_001027017.1:p.Pro293Leu