Canonical Allele Identifier: CA2497319596

Gene: CPT1A

Linked Data

• dbSNP Id: rs1855113733
• gnomAD v4: 11-68775317-TC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68775322del , CM000673.2:g.68775322del	GRCh38
NC_000011.9:g.68542790del , CM000673.1:g.68542790del	GRCh37
NC_000011.8:g.68299366del	NCBI36
NG_011801.1:g.71614del

Transcript Alleles

HGVS	Amino-acid change
ENST00000265641.10:c.1573del MANE Select	ENSP00000265641.4:p.Glu525AsnfsTer6
ENST00000265641.9:c.1573del	ENSP00000265641.4:p.Glu525AsnfsTer6
ENST00000376618.6:c.1573del	ENSP00000365803.2:p.Glu525AsnfsTer6
ENST00000539743.5:c.1573del	ENSP00000446108.1:p.Glu525AsnfsTer6
ENST00000540367.5:c.1573del	ENSP00000439084.1:p.Glu525AsnfsTer6
NM_001031847.2:c.1573del	NP_001027017.1:p.Glu525AsnfsTer6
NM_001876.3:c.1573del	NP_001867.2:p.Glu525AsnfsTer6
XM_005273762.1:c.1669del	XP_005273819.1:p.Glu557AsnfsTer6
XM_005273763.1:c.1669del	XP_005273820.1:p.Glu557AsnfsTer6
XM_005273762.3:c.1669del	XP_005273819.1:p.Glu557AsnfsTer6
XM_017017220.1:c.1573del	XP_016872709.1:p.Glu525AsnfsTer6
NM_001876.4:c.1573del MANE Select	NP_001867.2:p.Glu525AsnfsTer6
NM_001031847.3:c.1573del	NP_001027017.1:p.Glu525AsnfsTer6