Canonical Allele Identifier: CA396375385

Gene: LCAT

Linked Data

• MyVariant Identifiers: chr16:g.67973887T>G (hg19) ; chr16:g.67939984T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.67939984T>G , CM000678.2:g.67939984T>G	GRCh38
NC_000016.9:g.67973887T>G , CM000678.1:g.67973887T>G	GRCh37
NC_000016.8:g.66531388T>G	NCBI36
NG_009778.1:g.9129A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264005.10:c.1243A>C MANE Select	ENSP00000264005.5:p.Asn415His
ENST00000264005.9:c.1243A>C	ENSP00000264005.5:p.Asn415His
ENST00000570369.5:c.246A>C
ENST00000573538.5:c.981A>C	ENSP00000463220.1:n.981A>C
NM_000229.1:c.1243A>C	NP_000220.1:p.Asn415His
NM_000229.2:c.1243A>C MANE Select	NP_000220.1:p.Asn415His