Canonical Allele Identifier: CA283161265

Gene: LCAT

Linked Data

• dbSNP Id: rs1047546254
• gnomAD v4: 16-67940694-G-A
• MyVariant Identifiers: chr16:g.67974597G>A (hg19) ; chr16:g.67940694G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.67940694G>A , CM000678.2:g.67940694G>A	GRCh38
NC_000016.9:g.67974597G>A , CM000678.1:g.67974597G>A	GRCh37
NC_000016.8:g.66532098G>A	NCBI36
NG_009778.1:g.8419C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264005.10:c.749-216C>T MANE Select	ENSP00000264005.5:n.749-216C>T
ENST00000264005.9:c.749-216C>T	ENSP00000264005.5:n.749-216C>T
ENST00000570369.5:c.156-620C>T
ENST00000570980.1:c.533-216C>T	ENSP00000464651.1:n.533-216C>T
ENST00000573538.5:c.486+43C>T	ENSP00000463220.1:n.486+43C>T
NM_000229.1:c.749-216C>T	NP_000220.1:n.749-216C>T
NM_000229.2:c.749-216C>T MANE Select	NP_000220.1:n.749-216C>T