Canonical Allele Identifier: CA6152049

Gene: CPT1A

Linked Data

• dbSNP Id: rs748123766
• ExAC: 11:68527089 C / T
• gnomAD v2: 11-68527089-C-T
• gnomAD v4: 11-68759621-C-T
• MyVariant Identifiers: chr11:g.68527089C>T (hg19) ; chr11:g.68759621C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68759621C>T , CM000673.2:g.68759621C>T	GRCh38
NC_000011.9:g.68527089C>T , CM000673.1:g.68527089C>T	GRCh37
NC_000011.8:g.68283665C>T	NCBI36
NG_011801.1:g.87311G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265641.10:c.2183G>A MANE Select	ENSP00000265641.4:p.Gly728Glu
ENST00000265641.9:c.2183G>A	ENSP00000265641.4:p.Gly728Glu
ENST00000376618.6:c.2183G>A	ENSP00000365803.2:p.Gly728Glu
ENST00000539743.5:c.2183G>A	ENSP00000446108.1:p.Gly728Glu
ENST00000540367.5:c.2183G>A	ENSP00000439084.1:p.Gly728Glu
NM_001031847.2:c.2183G>A	NP_001027017.1:p.Gly728Glu
NM_001876.3:c.2183G>A	NP_001867.2:p.Gly728Glu
XM_005273762.1:c.2279G>A	XP_005273819.1:p.Gly760Glu
XM_005273763.1:c.2279G>A	XP_005273820.1:p.Gly760Glu
XM_005273762.3:c.2279G>A	XP_005273819.1:p.Gly760Glu
XM_017017220.1:c.2183G>A	XP_016872709.1:p.Gly728Glu
NM_001876.4:c.2183G>A MANE Select	NP_001867.2:p.Gly728Glu
NM_001031847.3:c.2183G>A	NP_001027017.1:p.Gly728Glu