Canonical Allele Identifier: CA475207277

Gene: CPT1A

Linked Data

• gnomAD v4: 11-68807535-G-A
• MyVariant Identifiers: chr11:g.68575003G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68807535G>A , CM000673.2:g.68807535G>A	GRCh38
NC_000011.9:g.68575003G>A , CM000673.1:g.68575003G>A	GRCh37
NC_000011.8:g.68331579G>A	NCBI36
NG_011801.1:g.39397C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265641.10:c.385C>T MANE Select	ENSP00000265641.4:p.Leu129=
ENST00000265641.9:c.385C>T	ENSP00000265641.4:p.Leu129=
ENST00000376618.6:c.385C>T	ENSP00000365803.2:p.Leu129=
ENST00000539743.5:c.385C>T	ENSP00000446108.1:p.Leu129=
ENST00000540367.5:c.385C>T	ENSP00000439084.1:p.Leu129=
ENST00000565318.5:c.385C>T	ENSP00000457826.1:p.Leu129=
NM_001031847.2:c.385C>T	NP_001027017.1:p.Leu129=
NM_001876.3:c.385C>T	NP_001867.2:p.Leu129=
XM_005273762.1:c.481C>T	XP_005273819.1:p.Leu161=
XM_005273763.1:c.481C>T	XP_005273820.1:p.Leu161=
XM_005273762.3:c.481C>T	XP_005273819.1:p.Leu161=
XM_017017220.1:c.385C>T	XP_016872709.1:p.Leu129=
NM_001876.4:c.385C>T MANE Select	NP_001867.2:p.Leu129=
NM_001031847.3:c.385C>T	NP_001027017.1:p.Leu129=