Canonical Allele Identifier: CA723100045

Gene: LCAT

Linked Data

• dbSNP Id: rs13306496
• gnomAD v3: 16-67942789-G-C
• gnomAD v4: 16-67942789-G-C
• MyVariant Identifiers: chr16:g.67976692G>C (hg19) ; chr16:g.67942789G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.67942789G>C , CM000678.2:g.67942789G>C	GRCh38
NC_000016.9:g.67976692G>C , CM000678.1:g.67976692G>C	GRCh37
NC_000016.8:g.66534193G>C	NCBI36
NG_009778.1:g.6324C>G
NG_033098.1:g.30906C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000264005.10:c.428-23C>G MANE Select	ENSP00000264005.5:n.428-23C>G
ENST00000264005.9:c.428-23C>G	ENSP00000264005.5:n.428-23C>G
ENST00000570369.5:c.155+72C>G
ENST00000570980.1:c.212-23C>G	ENSP00000464651.1:n.212-23C>G
ENST00000573538.5:c.71-23C>G	ENSP00000463220.1:n.71-23C>G
ENST00000573846.1:n.42-23C>G
ENST00000575277.1:n.206-23C>G
ENST00000575467.5:c.*123-23C>G	ENSP00000460653.1:n.*123-23C>G
NM_000229.1:c.428-23C>G	NP_000220.1:n.428-23C>G
NM_000229.2:c.428-23C>G MANE Select	NP_000220.1:n.428-23C>G