Canonical Allele Identifier: CA8120951
Gene: LCAT HGNC NCBI

Linked Data

dbSNP Id: rs756903007
ExAC: 16:67974321 G / A
gnomAD v2: 16-67974321-G-A
gnomAD v4: 16-67940418-G-A
MyVariant Identifiers: chr16:g.67974321G>A (hg19) chr16:g.67940418G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67940418G>A , CM000678.2:g.67940418G>A GRCh38
NC_000016.9:g.67974321G>A , CM000678.1:g.67974321G>A GRCh37
NC_000016.8:g.66531822G>A NCBI36
NG_009778.1:g.8695C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000264005.10:c.809C>T MANE Select ENSP00000264005.5:p.Thr270Ile
ENST00000264005.9:c.809C>T ENSP00000264005.5:p.Thr270Ile
ENST00000570369.5:c.156-344C>T
ENST00000570980.1:c.593C>T ENSP00000464651.1:p.Thr198Ile
ENST00000573538.5:c.547C>T ENSP00000463220.1:n.547C>T
NM_000229.1:c.809C>T NP_000220.1:p.Thr270Ile
NM_000229.2:c.809C>T MANE Select NP_000220.1:p.Thr270Ile
Search 100 bp 5'
Search 100 bp 3'