Canonical Allele Identifier: CA396375329

Gene: LCAT

Linked Data

• MyVariant Identifiers: chr16:g.67973859T>G (hg19) ; chr16:g.67939956T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.67939956T>G , CM000678.2:g.67939956T>G	GRCh38
NC_000016.9:g.67973859T>G , CM000678.1:g.67973859T>G	GRCh37
NC_000016.8:g.66531360T>G	NCBI36
NG_009778.1:g.9157A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264005.10:c.1271A>C MANE Select	ENSP00000264005.5:p.Gln424Pro
ENST00000264005.9:c.1271A>C	ENSP00000264005.5:p.Gln424Pro
ENST00000570369.5:c.274A>C
ENST00000573538.5:c.1009A>C	ENSP00000463220.1:n.1009A>C
NM_000229.1:c.1271A>C	NP_000220.1:p.Gln424Pro
NM_000229.2:c.1271A>C MANE Select	NP_000220.1:p.Gln424Pro