Canonical Allele Identifier: CA496384295

Gene: LCAT

Linked Data

• dbSNP Id: rs1292728945
• gnomAD v2: 16-67976792-C-T
• gnomAD v3: 16-67942889-C-T
• gnomAD v4: 16-67942889-C-T
• MyVariant Identifiers: chr16:g.67976792C>T (hg19) ; chr16:g.67942889C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.67942889C>T , CM000678.2:g.67942889C>T	GRCh38
NC_000016.9:g.67976792C>T , CM000678.1:g.67976792C>T	GRCh37
NC_000016.8:g.66534293C>T	NCBI36
NG_009778.1:g.6224G>A
NG_033098.1:g.30806G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264005.10:c.399G>A MANE Select	ENSP00000264005.5:p.Val133=
ENST00000264005.9:c.399G>A	ENSP00000264005.5:p.Val133=
ENST00000570369.5:c.127G>A
ENST00000570980.1:c.183G>A	ENSP00000464651.1:p.Val61=
ENST00000573538.5:c.42G>A	ENSP00000463220.1:p.Val14=
ENST00000573846.1:n.13G>A
ENST00000575277.1:n.177G>A
ENST00000575467.5:c.*94G>A	ENSP00000460653.1:n.*94G>A
NM_000229.1:c.399G>A	NP_000220.1:p.Val133=
NM_000229.2:c.399G>A MANE Select	NP_000220.1:p.Val133=