Canonical Allele Identifier: CA496384346

Gene: LCAT

Linked Data

• MyVariant Identifiers: chr16:g.67976849C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.67942946C>T , CM000678.2:g.67942946C>T	GRCh38
NC_000016.9:g.67976849C>T , CM000678.1:g.67976849C>T	GRCh37
NC_000016.8:g.66534350C>T	NCBI36
NG_009778.1:g.6167G>A
NG_033098.1:g.30749G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264005.10:c.342G>A MANE Select	ENSP00000264005.5:p.Val114=
ENST00000264005.9:c.342G>A	ENSP00000264005.5:p.Val114=
ENST00000570369.5:c.70G>A
ENST00000570980.1:c.126G>A	ENSP00000464651.1:p.Val42=
ENST00000575277.1:n.120G>A
ENST00000575467.5:c.*37G>A	ENSP00000460653.1:n.*37G>A
NM_000229.1:c.342G>A	NP_000220.1:p.Val114=
NM_000229.2:c.342G>A MANE Select	NP_000220.1:p.Val114=