Canonical Allele Identifier: CA381634472

Gene: CPT1A

Linked Data

• dbSNP Id: rs750821338
• gnomAD v2: 11-68562289-G-C
• gnomAD v3: 11-68794821-G-C
• gnomAD v4: 11-68794821-G-C
• MyVariant Identifiers: chr11:g.68562289G>C (hg19) ; chr11:g.68794821G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68794821G>C , CM000673.2:g.68794821G>C	GRCh38
NC_000011.9:g.68562289G>C , CM000673.1:g.68562289G>C	GRCh37
NC_000011.8:g.68318865G>C	NCBI36
NG_011801.1:g.52111C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000265641.10:c.862C>G MANE Select	ENSP00000265641.4:p.Arg288Gly
ENST00000265641.9:c.862C>G	ENSP00000265641.4:p.Arg288Gly
ENST00000376618.6:c.862C>G	ENSP00000365803.2:p.Arg288Gly
ENST00000538994.1:c.118C>G	ENSP00000454332.1:p.Arg40Gly
ENST00000539743.5:c.862C>G	ENSP00000446108.1:p.Arg288Gly
ENST00000540367.5:c.862C>G	ENSP00000439084.1:p.Arg288Gly
NM_001031847.2:c.862C>G	NP_001027017.1:p.Arg288Gly
NM_001876.3:c.862C>G	NP_001867.2:p.Arg288Gly
XM_005273762.1:c.958C>G	XP_005273819.1:p.Arg320Gly
XM_005273763.1:c.958C>G	XP_005273820.1:p.Arg320Gly
XM_005273762.3:c.958C>G	XP_005273819.1:p.Arg320Gly
XM_017017220.1:c.862C>G	XP_016872709.1:p.Arg288Gly
NM_001876.4:c.862C>G MANE Select	NP_001867.2:p.Arg288Gly
NM_001031847.3:c.862C>G	NP_001027017.1:p.Arg288Gly