Canonical Allele Identifier: CA396375333

Gene: LCAT

Linked Data

• gnomAD v4: 16-67939959-C-A
• MyVariant Identifiers: chr16:g.67973862C>A (hg19) ; chr16:g.67939959C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.67939959C>A , CM000678.2:g.67939959C>A	GRCh38
NC_000016.9:g.67973862C>A , CM000678.1:g.67973862C>A	GRCh37
NC_000016.8:g.66531363C>A	NCBI36
NG_009778.1:g.9154G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264005.10:c.1268G>T MANE Select	ENSP00000264005.5:p.Arg423Leu
ENST00000264005.9:c.1268G>T	ENSP00000264005.5:p.Arg423Leu
ENST00000570369.5:c.271G>T
ENST00000573538.5:c.1006G>T	ENSP00000463220.1:n.1006G>T
NM_000229.1:c.1268G>T	NP_000220.1:p.Arg423Leu
NM_000229.2:c.1268G>T MANE Select	NP_000220.1:p.Arg423Leu