Canonical Allele Identifier: CA475205355

Gene: CPT1A

Linked Data

• gnomAD v4: 11-68804009-A-G
• MyVariant Identifiers: chr11:g.68571477A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68804009A>G , CM000673.2:g.68804009A>G	GRCh38
NC_000011.9:g.68571477A>G , CM000673.1:g.68571477A>G	GRCh37
NC_000011.8:g.68328053A>G	NCBI36
NG_011801.1:g.42923T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265641.10:c.546T>C MANE Select	ENSP00000265641.4:p.Thr182=
ENST00000265641.9:c.546T>C	ENSP00000265641.4:p.Thr182=
ENST00000376618.6:c.546T>C	ENSP00000365803.2:p.Thr182=
ENST00000539743.5:c.546T>C	ENSP00000446108.1:p.Thr182=
ENST00000540367.5:c.546T>C	ENSP00000439084.1:p.Thr182=
NM_001031847.2:c.546T>C	NP_001027017.1:p.Thr182=
NM_001876.3:c.546T>C	NP_001867.2:p.Thr182=
XM_005273762.1:c.642T>C	XP_005273819.1:p.Thr214=
XM_005273763.1:c.642T>C	XP_005273820.1:p.Thr214=
XM_005273762.3:c.642T>C	XP_005273819.1:p.Thr214=
XM_017017220.1:c.546T>C	XP_016872709.1:p.Thr182=
NM_001876.4:c.546T>C MANE Select	NP_001867.2:p.Thr182=
NM_001031847.3:c.546T>C	NP_001027017.1:p.Thr182=