Canonical Allele Identifier: CA8121092

Gene: LCAT

Linked Data

• dbSNP Id: rs763035411
• ExAC: 16:67976761 A / G
• gnomAD v2: 16-67976761-A-G
• gnomAD v4: 16-67942858-A-G
• MyVariant Identifiers: chr16:g.67976761A>G (hg19) ; chr16:g.67942858A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.67942858A>G , CM000678.2:g.67942858A>G	GRCh38
NC_000016.9:g.67976761A>G , CM000678.1:g.67976761A>G	GRCh37
NC_000016.8:g.66534262A>G	NCBI36
NG_009778.1:g.6255T>C
NG_033098.1:g.30837T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264005.10:c.427+3T>C MANE Select	ENSP00000264005.5:n.427+3T>C
ENST00000264005.9:c.427+3T>C	ENSP00000264005.5:n.427+3T>C
ENST00000570369.5:c.155+3T>C
ENST00000570980.1:c.211+3T>C	ENSP00000464651.1:n.211+3T>C
ENST00000573538.5:c.70+3T>C	ENSP00000463220.1:n.70+3T>C
ENST00000573846.1:n.41+3T>C
ENST00000575277.1:n.205+3T>C
ENST00000575467.5:c.*122+3T>C	ENSP00000460653.1:n.*122+3T>C
NM_000229.1:c.427+3T>C	NP_000220.1:n.427+3T>C
NM_000229.2:c.427+3T>C MANE Select	NP_000220.1:n.427+3T>C