Canonical Allele Identifier: CA623122348

Gene: LCAT

Linked Data

• dbSNP Id: rs1213950080
• gnomAD v2: 16-67976672-G-A
• MyVariant Identifiers: chr16:g.67976672G>A (hg19) ; chr16:g.67942769G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.67942769G>A , CM000678.2:g.67942769G>A	GRCh38
NC_000016.9:g.67976672G>A , CM000678.1:g.67976672G>A	GRCh37
NC_000016.8:g.66534173G>A	NCBI36
NG_009778.1:g.6344C>T
NG_033098.1:g.30926C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264005.10:c.428-3C>T MANE Select	ENSP00000264005.5:n.428-3C>T
ENST00000264005.9:c.428-3C>T	ENSP00000264005.5:n.428-3C>T
ENST00000570369.5:c.155+92C>T
ENST00000570980.1:c.212-3C>T	ENSP00000464651.1:n.212-3C>T
ENST00000573538.5:c.71-3C>T	ENSP00000463220.1:n.71-3C>T
ENST00000573846.1:n.42-3C>T
ENST00000575277.1:n.206-3C>T
ENST00000575467.5:c.*123-3C>T	ENSP00000460653.1:n.*123-3C>T
NM_000229.1:c.428-3C>T	NP_000220.1:n.428-3C>T
NM_000229.2:c.428-3C>T MANE Select	NP_000220.1:n.428-3C>T