Canonical Allele Identifier: CA396381011

Gene: LCAT

Linked Data

• MyVariant Identifiers: chr16:g.67976842C>G (hg19) ; chr16:g.67942939C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.67942939C>G , CM000678.2:g.67942939C>G	GRCh38
NC_000016.9:g.67976842C>G , CM000678.1:g.67976842C>G	GRCh37
NC_000016.8:g.66534343C>G	NCBI36
NG_009778.1:g.6174G>C
NG_033098.1:g.30756G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264005.10:c.349G>C MANE Select	ENSP00000264005.5:p.Ala117Pro
ENST00000264005.9:c.349G>C	ENSP00000264005.5:p.Ala117Pro
ENST00000570369.5:c.77G>C
ENST00000570980.1:c.133G>C	ENSP00000464651.1:p.Ala45Pro
ENST00000575277.1:n.127G>C
ENST00000575467.5:c.*44G>C	ENSP00000460653.1:n.*44G>C
NM_000229.1:c.349G>C	NP_000220.1:p.Ala117Pro
NM_000229.2:c.349G>C MANE Select	NP_000220.1:p.Ala117Pro