Canonical Allele Identifier: CA6152689

Gene: CPT1A

Linked Data

• ClinVar Variation Id: 2730912
• ClinVar RCV Id: RCV003588330
• dbSNP Id: rs767840321
• ExAC: 11:68574971 C / G
• gnomAD v2: 11-68574971-C-G
• gnomAD v3: 11-68807503-C-G
• gnomAD v4: 11-68807503-C-G
• MyVariant Identifiers: chr11:g.68574971C>G (hg19) ; chr11:g.68807503C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68807503C>G , CM000673.2:g.68807503C>G	GRCh38
NC_000011.9:g.68574971C>G , CM000673.1:g.68574971C>G	GRCh37
NC_000011.8:g.68331547C>G	NCBI36
NG_011801.1:g.39429G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265641.10:c.417G>C MANE Select	ENSP00000265641.4:p.Glu139Asp
ENST00000265641.9:c.417G>C	ENSP00000265641.4:p.Glu139Asp
ENST00000376618.6:c.417G>C	ENSP00000365803.2:p.Glu139Asp
ENST00000539743.5:c.417G>C	ENSP00000446108.1:p.Glu139Asp
ENST00000540367.5:c.417G>C	ENSP00000439084.1:p.Glu139Asp
NM_001031847.2:c.417G>C	NP_001027017.1:p.Glu139Asp
NM_001876.3:c.417G>C	NP_001867.2:p.Glu139Asp
XM_005273762.1:c.513G>C	XP_005273819.1:p.Glu171Asp
XM_005273763.1:c.513G>C	XP_005273820.1:p.Glu171Asp
XM_005273762.3:c.513G>C	XP_005273819.1:p.Glu171Asp
XM_017017220.1:c.417G>C	XP_016872709.1:p.Glu139Asp
NM_001876.4:c.417G>C MANE Select	NP_001867.2:p.Glu139Asp
NM_001031847.3:c.417G>C	NP_001027017.1:p.Glu139Asp