Canonical Allele Identifier: CA645575728

Gene: CPT1A

Linked Data

• COSMIC: COSM5839427 ; COSM5839428

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68775353_68775354delinsAA , CM000673.2:g.68775353_68775354delinsAA	GRCh38
NC_000011.9:g.68542821_68542822delinsAA , CM000673.1:g.68542821_68542822delinsAA	GRCh37
NC_000011.8:g.68299397_68299398delinsAA	NCBI36
NG_011801.1:g.71578_71579delinsTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265641.10:c.1537_1538delinsTT MANE Select	ENSP00000265641.4:p.Pro513Leu
ENST00000265641.9:c.1537_1538delinsTT	ENSP00000265641.4:p.Pro513Leu
ENST00000376618.6:c.1537_1538delinsTT	ENSP00000365803.2:p.Pro513Leu
ENST00000539743.5:c.1537_1538delinsTT	ENSP00000446108.1:p.Pro513Leu
ENST00000540367.5:c.1537_1538delinsTT	ENSP00000439084.1:p.Pro513Leu
NM_001031847.2:c.1537_1538delinsTT	NP_001027017.1:p.Pro513Leu
NM_001876.3:c.1537_1538delinsTT	NP_001867.2:p.Pro513Leu
XM_005273762.1:c.1633_1634delinsTT	XP_005273819.1:p.Pro545Leu
XM_005273763.1:c.1633_1634delinsTT	XP_005273820.1:p.Pro545Leu
XM_005273762.3:c.1633_1634delinsTT	XP_005273819.1:p.Pro545Leu
XM_017017220.1:c.1537_1538delinsTT	XP_016872709.1:p.Pro513Leu
NM_001876.4:c.1537_1538delinsTT MANE Select	NP_001867.2:p.Pro513Leu
NM_001031847.3:c.1537_1538delinsTT	NP_001027017.1:p.Pro513Leu