Canonical Allele Identifier: CA6152499

Gene: CPT1A

Linked Data

• dbSNP Id: rs546227126
• ExAC: 11:68562241 A / G
• gnomAD v2: 11-68562241-A-G
• gnomAD v3: 11-68794773-A-G
• gnomAD v4: 11-68794773-A-G
• MyVariant Identifiers: chr11:g.68562241A>G (hg19) ; chr11:g.68794773A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68794773A>G , CM000673.2:g.68794773A>G	GRCh38
NC_000011.9:g.68562241A>G , CM000673.1:g.68562241A>G	GRCh37
NC_000011.8:g.68318817A>G	NCBI36
NG_011801.1:g.52159T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000265641.10:c.879+31T>C MANE Select	ENSP00000265641.4:n.879+31T>C
ENST00000265641.9:c.879+31T>C	ENSP00000265641.4:n.879+31T>C
ENST00000376618.6:c.879+31T>C	ENSP00000365803.2:n.879+31T>C
ENST00000538994.1:c.135+31T>C	ENSP00000454332.1:n.135+31T>C
ENST00000539743.5:c.879+31T>C	ENSP00000446108.1:n.879+31T>C
ENST00000540367.5:c.879+31T>C	ENSP00000439084.1:n.879+31T>C
NM_001031847.2:c.879+31T>C	NP_001027017.1:n.879+31T>C
NM_001876.3:c.879+31T>C	NP_001867.2:n.879+31T>C
XM_005273762.1:c.975+31T>C	XP_005273819.1:n.975+31T>C
XM_005273763.1:c.975+31T>C	XP_005273820.1:n.975+31T>C
XM_005273762.3:c.975+31T>C	XP_005273819.1:n.975+31T>C
XM_017017220.1:c.879+31T>C	XP_016872709.1:n.879+31T>C
NM_001876.4:c.879+31T>C MANE Select	NP_001867.2:n.879+31T>C
NM_001031847.3:c.879+31T>C	NP_001027017.1:n.879+31T>C