Canonical Allele Identifier: CA116426

Gene: LCAT

Linked Data

• ClinVar Variation Id: 3671
• ClinVar RCV Id: RCV000003856 ; RCV002496248
• dbSNP Id: rs121908055
• ExAC: 16:67976870 G / T
• gnomAD v2: 16-67976870-G-T
• gnomAD v3: 16-67942967-G-T
• gnomAD v4: 16-67942967-G-T
• MyVariant Identifiers: chr16:g.67976870G>T (hg19) ; chr16:g.67942967G>T (hg38)
• PubMed: PMID:8432868

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.67942967G>T , CM000678.2:g.67942967G>T	GRCh38
NC_000016.9:g.67976870G>T , CM000678.1:g.67976870G>T	GRCh37
NC_000016.8:g.66534371G>T	NCBI36
NG_009778.1:g.6146C>A
NG_033098.1:g.30728C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264005.10:c.321C>A MANE Select	ENSP00000264005.5:p.Tyr107Ter
ENST00000264005.9:c.321C>A	ENSP00000264005.5:p.Tyr107Ter
ENST00000570369.5:c.49C>A
ENST00000570980.1:c.105C>A	ENSP00000464651.1:p.Tyr35Ter
ENST00000575277.1:n.99C>A
ENST00000575467.5:c.*16C>A	ENSP00000460653.1:n.*16C>A
NM_000229.1:c.321C>A	NP_000220.1:p.Tyr107Ter
NM_000229.2:c.321C>A MANE Select	NP_000220.1:p.Tyr107Ter