Canonical Allele Identifier: CA396381039

Gene: LCAT

Linked Data

• dbSNP Id: rs1412883954
• gnomAD v2: 16-67976848-A-G
• MyVariant Identifiers: chr16:g.67976848A>G (hg19) ; chr16:g.67942945A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.67942945A>G , CM000678.2:g.67942945A>G	GRCh38
NC_000016.9:g.67976848A>G , CM000678.1:g.67976848A>G	GRCh37
NC_000016.8:g.66534349A>G	NCBI36
NG_009778.1:g.6168T>C
NG_033098.1:g.30750T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264005.10:c.343T>C MANE Select	ENSP00000264005.5:p.Ser115Pro
ENST00000264005.9:c.343T>C	ENSP00000264005.5:p.Ser115Pro
ENST00000570369.5:c.71T>C
ENST00000570980.1:c.127T>C	ENSP00000464651.1:p.Ser43Pro
ENST00000575277.1:n.121T>C
ENST00000575467.5:c.*38T>C	ENSP00000460653.1:n.*38T>C
NM_000229.1:c.343T>C	NP_000220.1:p.Ser115Pro
NM_000229.2:c.343T>C MANE Select	NP_000220.1:p.Ser115Pro