Canonical Allele Identifier: CA494533099

Gene: LAT

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.28985459G>C , CM000678.2:g.28985459G>C	GRCh38
NC_000016.9:g.28996780G>C , CM000678.1:g.28996780G>C	GRCh37
NC_000016.8:g.28904281G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_001014987.2:c.42G>C MANE Select	NP_001014987.1:p.Leu14=
ENST00000395456.7:c.42G>C MANE Select	ENSP00000378841.3:p.Leu14=
NM_001014987.1:c.42G>C	NP_001014987.1:p.Leu14=
NM_001014988.1:c.42G>C	NP_001014988.1:p.Leu14=
NM_001014988.2:c.42G>C	NP_001014988.1:p.Leu14=
NM_001014989.1:c.150G>C	NP_001014989.2:p.Leu50=
NM_001014989.2:c.150G>C	NP_001014989.2:p.Leu50=
NM_014387.3:c.42G>C	NP_055202.1:p.Leu14=
NM_014387.4:c.42G>C	NP_055202.1:p.Leu14=
ENST00000354453.7:n.394G>C
ENST00000360872.9:c.42G>C	ENSP00000354119.5:p.Leu14=
ENST00000395456.6:c.42G>C	ENSP00000378841.2:p.Leu14=
ENST00000395461.7:c.150G>C	ENSP00000378845.3:p.Leu50=
ENST00000454369.6:c.42G>C	ENSP00000398793.2:p.Leu14=
ENST00000562472.5:n.396G>C
ENST00000562701.5:c.42G>C	ENSP00000454793.1:p.Leu14=
ENST00000563964.5:n.394G>C
ENST00000564277.5:c.42G>C	ENSP00000457036.1:p.Leu14=
ENST00000566177.5:c.42G>C	ENSP00000456761.1:p.Leu14=
ENST00000566270.5:n.411G>C
ENST00000630764.2:c.42G>C	ENSP00000488120.1:p.Leu14=