Canonical Allele Identifier: CA396380959

Gene: LCAT

Linked Data

• MyVariant Identifiers: chr16:g.67976830G>T (hg19) ; chr16:g.67942927G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.67942927G>T , CM000678.2:g.67942927G>T	GRCh38
NC_000016.9:g.67976830G>T , CM000678.1:g.67976830G>T	GRCh37
NC_000016.8:g.66534331G>T	NCBI36
NG_009778.1:g.6186C>A
NG_033098.1:g.30768C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264005.10:c.361C>A MANE Select	ENSP00000264005.5:p.Gln121Lys
ENST00000264005.9:c.361C>A	ENSP00000264005.5:p.Gln121Lys
ENST00000570369.5:c.89C>A
ENST00000570980.1:c.145C>A	ENSP00000464651.1:p.Gln49Lys
ENST00000573538.5:c.4C>A	ENSP00000463220.1:p.Gln2Lys
ENST00000575277.1:n.139C>A
ENST00000575467.5:c.*56C>A	ENSP00000460653.1:n.*56C>A
NM_000229.1:c.361C>A	NP_000220.1:p.Gln121Lys
NM_000229.2:c.361C>A MANE Select	NP_000220.1:p.Gln121Lys