Canonical Allele Identifier: CA381634280

Gene: CPT1A

Linked Data

• MyVariant Identifiers: chr11:g.68560852T>C (hg19) ; chr11:g.68793384T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68793384T>C , CM000673.2:g.68793384T>C	GRCh38
NC_000011.9:g.68560852T>C , CM000673.1:g.68560852T>C	GRCh37
NC_000011.8:g.68317428T>C	NCBI36
NG_011801.1:g.53548A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265641.10:c.898A>G MANE Select	ENSP00000265641.4:p.Thr300Ala
ENST00000265641.9:c.898A>G	ENSP00000265641.4:p.Thr300Ala
ENST00000376618.6:c.898A>G	ENSP00000365803.2:p.Thr300Ala
ENST00000538994.1:c.154A>G	ENSP00000454332.1:p.Thr52Ala
ENST00000539743.5:c.898A>G	ENSP00000446108.1:p.Thr300Ala
ENST00000540367.5:c.898A>G	ENSP00000439084.1:p.Thr300Ala
NM_001031847.2:c.898A>G	NP_001027017.1:p.Thr300Ala
NM_001876.3:c.898A>G	NP_001867.2:p.Thr300Ala
XM_005273762.1:c.994A>G	XP_005273819.1:p.Thr332Ala
XM_005273763.1:c.994A>G	XP_005273820.1:p.Thr332Ala
XM_005273762.3:c.994A>G	XP_005273819.1:p.Thr332Ala
XM_017017220.1:c.898A>G	XP_016872709.1:p.Thr300Ala
NM_001876.4:c.898A>G MANE Select	NP_001867.2:p.Thr300Ala
NM_001031847.3:c.898A>G	NP_001027017.1:p.Thr300Ala