Canonical Allele Identifier: CA381635199

Gene: CPT1A

Linked Data

• MyVariant Identifiers: chr11:g.68566700A>C (hg19) ; chr11:g.68799232A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68799232A>C , CM000673.2:g.68799232A>C	GRCh38
NC_000011.9:g.68566700A>C , CM000673.1:g.68566700A>C	GRCh37
NC_000011.8:g.68323276A>C	NCBI36
NG_011801.1:g.47700T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000265641.10:c.679T>G MANE Select	ENSP00000265641.4:p.Trp227Gly
ENST00000265641.9:c.679T>G	ENSP00000265641.4:p.Trp227Gly
ENST00000376618.6:c.679T>G	ENSP00000365803.2:p.Trp227Gly
ENST00000538994.1:c.-66T>G	ENSP00000454332.1:n.-66T>G
ENST00000539743.5:c.679T>G	ENSP00000446108.1:p.Trp227Gly
ENST00000540367.5:c.679T>G	ENSP00000439084.1:p.Trp227Gly
NM_001031847.2:c.679T>G	NP_001027017.1:p.Trp227Gly
NM_001876.3:c.679T>G	NP_001867.2:p.Trp227Gly
XM_005273762.1:c.775T>G	XP_005273819.1:p.Trp259Gly
XM_005273763.1:c.775T>G	XP_005273820.1:p.Trp259Gly
XM_005273762.3:c.775T>G	XP_005273819.1:p.Trp259Gly
XM_017017220.1:c.679T>G	XP_016872709.1:p.Trp227Gly
NM_001876.4:c.679T>G MANE Select	NP_001867.2:p.Trp227Gly
NM_001031847.3:c.679T>G	NP_001027017.1:p.Trp227Gly