Canonical Allele Identifier: CA396380770

Gene: LCAT

Linked Data

• MyVariant Identifiers: chr16:g.67976797A>G (hg19) ; chr16:g.67942894A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.67942894A>G , CM000678.2:g.67942894A>G	GRCh38
NC_000016.9:g.67976797A>G , CM000678.1:g.67976797A>G	GRCh37
NC_000016.8:g.66534298A>G	NCBI36
NG_009778.1:g.6219T>C
NG_033098.1:g.30801T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000264005.10:c.394T>C MANE Select	ENSP00000264005.5:p.Ser132Pro
ENST00000264005.9:c.394T>C	ENSP00000264005.5:p.Ser132Pro
ENST00000570369.5:c.122T>C
ENST00000570980.1:c.178T>C	ENSP00000464651.1:p.Ser60Pro
ENST00000573538.5:c.37T>C	ENSP00000463220.1:p.Ser13Pro
ENST00000573846.1:n.8T>C
ENST00000575277.1:n.172T>C
ENST00000575467.5:c.*89T>C	ENSP00000460653.1:n.*89T>C
NM_000229.1:c.394T>C	NP_000220.1:p.Ser132Pro
NM_000229.2:c.394T>C MANE Select	NP_000220.1:p.Ser132Pro