Canonical Allele Identifier: CA8121085

Gene: LCAT

Linked Data

• dbSNP Id: rs773756772
• ExAC: 16:67976718 G / C
• gnomAD v2: 16-67976718-G-C
• gnomAD v4: 16-67942815-G-C
• MyVariant Identifiers: chr16:g.67976718G>C (hg19) ; chr16:g.67942815G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.67942815G>C , CM000678.2:g.67942815G>C	GRCh38
NC_000016.9:g.67976718G>C , CM000678.1:g.67976718G>C	GRCh37
NC_000016.8:g.66534219G>C	NCBI36
NG_009778.1:g.6298C>G
NG_033098.1:g.30880C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264005.10:c.427+46C>G MANE Select	ENSP00000264005.5:n.427+46C>G
ENST00000264005.9:c.427+46C>G	ENSP00000264005.5:n.427+46C>G
ENST00000570369.5:c.155+46C>G
ENST00000570980.1:c.211+46C>G	ENSP00000464651.1:n.211+46C>G
ENST00000573538.5:c.70+46C>G	ENSP00000463220.1:n.70+46C>G
ENST00000573846.1:n.41+46C>G
ENST00000575277.1:n.205+46C>G
ENST00000575467.5:c.*122+46C>G	ENSP00000460653.1:n.*122+46C>G
NM_000229.1:c.427+46C>G	NP_000220.1:n.427+46C>G
NM_000229.2:c.427+46C>G MANE Select	NP_000220.1:n.427+46C>G