Canonical Allele Identifier: CA396376042

Gene: LCAT

Linked Data

• MyVariant Identifiers: chr16:g.67974200G>T (hg19) ; chr16:g.67940297G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.67940297G>T , CM000678.2:g.67940297G>T	GRCh38
NC_000016.9:g.67974200G>T , CM000678.1:g.67974200G>T	GRCh37
NC_000016.8:g.66531701G>T	NCBI36
NG_009778.1:g.8816C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264005.10:c.930C>A MANE Select	ENSP00000264005.5:p.His310Gln
ENST00000264005.9:c.930C>A	ENSP00000264005.5:p.His310Gln
ENST00000570369.5:c.156-223C>A
ENST00000570980.1:c.714C>A	ENSP00000464651.1:p.His238Gln
ENST00000573538.5:c.668C>A	ENSP00000463220.1:n.668C>A
NM_000229.1:c.930C>A	NP_000220.1:p.His310Gln
NM_000229.2:c.930C>A MANE Select	NP_000220.1:p.His310Gln