Canonical Allele Identifier: CA223365653

Gene: CPT1A

Linked Data

• ClinVar Variation Id: 1129920
• ClinVar RCV Id: RCV001463255
• dbSNP Id: rs947049863
• gnomAD v3: 11-68759581-A-G
• gnomAD v4: 11-68759581-A-G
• MyVariant Identifiers: chr11:g.68527049A>G (hg19) ; chr11:g.68759581A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68759581A>G , CM000673.2:g.68759581A>G	GRCh38
NC_000011.9:g.68527049A>G , CM000673.1:g.68527049A>G	GRCh37
NC_000011.8:g.68283625A>G	NCBI36
NG_011801.1:g.87351T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000265641.10:c.2223T>C MANE Select	ENSP00000265641.4:p.Ser741=
ENST00000265641.9:c.2223T>C	ENSP00000265641.4:p.Ser741=
ENST00000376618.6:c.2223T>C	ENSP00000365803.2:p.Ser741=
ENST00000539743.5:c.2223T>C	ENSP00000446108.1:p.Ser741=
ENST00000540367.5:c.2223T>C	ENSP00000439084.1:p.Ser741=
NM_001031847.2:c.2223T>C	NP_001027017.1:p.Ser741=
NM_001876.3:c.2223T>C	NP_001867.2:p.Ser741=
XM_005273762.1:c.2319T>C	XP_005273819.1:p.Ser773=
XM_005273763.1:c.2319T>C	XP_005273820.1:p.Ser773=
XM_005273762.3:c.2319T>C	XP_005273819.1:p.Ser773=
XM_017017220.1:c.2223T>C	XP_016872709.1:p.Ser741=
NM_001876.4:c.2223T>C MANE Select	NP_001867.2:p.Ser741=
NM_001031847.3:c.2223T>C	NP_001027017.1:p.Ser741=