Canonical Allele Identifier: CA344987

Gene: CPT1A

Linked Data

• ClinVar Variation Id: 65656
• ClinVar RCV Id: RCV000055869
• dbSNP Id: rs80356789
• MyVariant Identifiers: chr11:g.68560838G>C (hg19) ; chr11:g.68793370G>C (hg38)
• PubMed: PMID:11441142 ; PMID:20301700

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68793370G>C , CM000673.2:g.68793370G>C	GRCh38
NC_000011.9:g.68560838G>C , CM000673.1:g.68560838G>C	GRCh37
NC_000011.8:g.68317414G>C	NCBI36
NG_011801.1:g.53562C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000265641.10:c.912C>G MANE Select	ENSP00000265641.4:p.Cys304Trp
ENST00000265641.9:c.912C>G	ENSP00000265641.4:p.Cys304Trp
ENST00000376618.6:c.912C>G	ENSP00000365803.2:p.Cys304Trp
ENST00000538994.1:c.168C>G	ENSP00000454332.1:p.Cys56Trp
ENST00000539743.5:c.912C>G	ENSP00000446108.1:p.Cys304Trp
ENST00000540367.5:c.912C>G	ENSP00000439084.1:p.Cys304Trp
NM_001031847.2:c.912C>G	NP_001027017.1:p.Cys304Trp
NM_001876.3:c.912C>G	NP_001867.2:p.Cys304Trp
XM_005273762.1:c.1008C>G	XP_005273819.1:p.Cys336Trp
XM_005273763.1:c.1008C>G	XP_005273820.1:p.Cys336Trp
XM_005273762.3:c.1008C>G	XP_005273819.1:p.Cys336Trp
XM_017017220.1:c.912C>G	XP_016872709.1:p.Cys304Trp
NM_001876.4:c.912C>G MANE Select	NP_001867.2:p.Cys304Trp
NM_001031847.3:c.912C>G	NP_001027017.1:p.Cys304Trp