Canonical Allele Identifier: CA344960

Gene: CPT1A

Linked Data

• ClinVar Variation Id: 65640
• ClinVar RCV Id: RCV000055853
• dbSNP Id: rs80356777
• ExAC: 11:68552377 G / A
• gnomAD v2: 11-68552377-G-A
• gnomAD v3: 11-68784909-G-A
• gnomAD v4: 11-68784909-G-A
• MyVariant Identifiers: chr11:g.68552377G>A (hg19) ; chr11:g.68784909G>A (hg38)
• PubMed: PMID:11441142 ; PMID:20301700

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68784909G>A , CM000673.2:g.68784909G>A	GRCh38
NC_000011.9:g.68552377G>A , CM000673.1:g.68552377G>A	GRCh37
NC_000011.8:g.68308953G>A	NCBI36
NG_011801.1:g.62023C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265641.10:c.1069C>T MANE Select	ENSP00000265641.4:p.Arg357Trp
ENST00000265641.9:c.1069C>T	ENSP00000265641.4:p.Arg357Trp
ENST00000376618.6:c.1069C>T	ENSP00000365803.2:p.Arg357Trp
ENST00000539743.5:c.1069C>T	ENSP00000446108.1:p.Arg357Trp
ENST00000540367.5:c.1069C>T	ENSP00000439084.1:p.Arg357Trp
NM_001031847.2:c.1069C>T	NP_001027017.1:p.Arg357Trp
NM_001876.3:c.1069C>T	NP_001867.2:p.Arg357Trp
XM_005273762.1:c.1165C>T	XP_005273819.1:p.Arg389Trp
XM_005273763.1:c.1165C>T	XP_005273820.1:p.Arg389Trp
XM_005273762.3:c.1165C>T	XP_005273819.1:p.Arg389Trp
XM_017017220.1:c.1069C>T	XP_016872709.1:p.Arg357Trp
NM_001876.4:c.1069C>T MANE Select	NP_001867.2:p.Arg357Trp
NM_001031847.3:c.1069C>T	NP_001027017.1:p.Arg357Trp