Canonical Allele Identifier: CA396376287

Gene: LCAT

Linked Data

• dbSNP Id: rs2058285889
• gnomAD v4: 16-67940406-G-C
• MyVariant Identifiers: chr16:g.67974309G>C (hg19) ; chr16:g.67940406G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.67940406G>C , CM000678.2:g.67940406G>C	GRCh38
NC_000016.9:g.67974309G>C , CM000678.1:g.67974309G>C	GRCh37
NC_000016.8:g.66531810G>C	NCBI36
NG_009778.1:g.8707C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264005.10:c.821C>G MANE Select	ENSP00000264005.5:p.Pro274Arg
ENST00000264005.9:c.821C>G	ENSP00000264005.5:p.Pro274Arg
ENST00000570369.5:c.156-332C>G
ENST00000570980.1:c.605C>G	ENSP00000464651.1:p.Pro202Arg
ENST00000573538.5:c.559C>G	ENSP00000463220.1:n.559C>G
NM_000229.1:c.821C>G	NP_000220.1:p.Pro274Arg
NM_000229.2:c.821C>G MANE Select	NP_000220.1:p.Pro274Arg