Canonical Allele Identifier: CA396380723

Gene: LCAT

Linked Data

• dbSNP Id: rs1231577814
• gnomAD v2: 16-67976786-G-C
• gnomAD v4: 16-67942883-G-C
• MyVariant Identifiers: chr16:g.67976786G>C (hg19) ; chr16:g.67942883G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.67942883G>C , CM000678.2:g.67942883G>C	GRCh38
NC_000016.9:g.67976786G>C , CM000678.1:g.67976786G>C	GRCh37
NC_000016.8:g.66534287G>C	NCBI36
NG_009778.1:g.6230C>G
NG_033098.1:g.30812C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264005.10:c.405C>G MANE Select	ENSP00000264005.5:p.Tyr135Ter
ENST00000264005.9:c.405C>G	ENSP00000264005.5:p.Tyr135Ter
ENST00000570369.5:c.133C>G
ENST00000570980.1:c.189C>G	ENSP00000464651.1:p.Tyr63Ter
ENST00000573538.5:c.48C>G	ENSP00000463220.1:p.Tyr16Ter
ENST00000573846.1:n.19C>G
ENST00000575277.1:n.183C>G
ENST00000575467.5:c.*100C>G	ENSP00000460653.1:n.*100C>G
NM_000229.1:c.405C>G	NP_000220.1:p.Tyr135Ter
NM_000229.2:c.405C>G MANE Select	NP_000220.1:p.Tyr135Ter