Canonical Allele Identifier: CA381634246

Gene: CPT1A

Linked Data

• MyVariant Identifiers: chr11:g.68560836G>A (hg19) ; chr11:g.68793368G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68793368G>A , CM000673.2:g.68793368G>A	GRCh38
NC_000011.9:g.68560836G>A , CM000673.1:g.68560836G>A	GRCh37
NC_000011.8:g.68317412G>A	NCBI36
NG_011801.1:g.53564C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265641.10:c.914C>T MANE Select	ENSP00000265641.4:p.Ser305Phe
ENST00000265641.9:c.914C>T	ENSP00000265641.4:p.Ser305Phe
ENST00000376618.6:c.914C>T	ENSP00000365803.2:p.Ser305Phe
ENST00000538994.1:c.170C>T	ENSP00000454332.1:p.Ser57Phe
ENST00000539743.5:c.914C>T	ENSP00000446108.1:p.Ser305Phe
ENST00000540367.5:c.914C>T	ENSP00000439084.1:p.Ser305Phe
NM_001031847.2:c.914C>T	NP_001027017.1:p.Ser305Phe
NM_001876.3:c.914C>T	NP_001867.2:p.Ser305Phe
XM_005273762.1:c.1010C>T	XP_005273819.1:p.Ser337Phe
XM_005273763.1:c.1010C>T	XP_005273820.1:p.Ser337Phe
XM_005273762.3:c.1010C>T	XP_005273819.1:p.Ser337Phe
XM_017017220.1:c.914C>T	XP_016872709.1:p.Ser305Phe
NM_001876.4:c.914C>T MANE Select	NP_001867.2:p.Ser305Phe
NM_001031847.3:c.914C>T	NP_001027017.1:p.Ser305Phe