Canonical Allele Identifier: CA283163027

Gene: LCAT

Linked Data

• dbSNP Id: rs1003444341
• gnomAD v2: 16-67976675-G-C
• gnomAD v3: 16-67942772-G-C
• gnomAD v4: 16-67942772-G-C
• MyVariant Identifiers: chr16:g.67976675G>C (hg19) ; chr16:g.67942772G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.67942772G>C , CM000678.2:g.67942772G>C	GRCh38
NC_000016.9:g.67976675G>C , CM000678.1:g.67976675G>C	GRCh37
NC_000016.8:g.66534176G>C	NCBI36
NG_009778.1:g.6341C>G
NG_033098.1:g.30923C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000264005.10:c.428-6C>G MANE Select	ENSP00000264005.5:n.428-6C>G
ENST00000264005.9:c.428-6C>G	ENSP00000264005.5:n.428-6C>G
ENST00000570369.5:c.155+89C>G
ENST00000570980.1:c.212-6C>G	ENSP00000464651.1:n.212-6C>G
ENST00000573538.5:c.71-6C>G	ENSP00000463220.1:n.71-6C>G
ENST00000573846.1:n.42-6C>G
ENST00000575277.1:n.206-6C>G
ENST00000575467.5:c.*123-6C>G	ENSP00000460653.1:n.*123-6C>G
NM_000229.1:c.428-6C>G	NP_000220.1:n.428-6C>G
NM_000229.2:c.428-6C>G MANE Select	NP_000220.1:n.428-6C>G