Canonical Allele Identifier: CA496384122
Gene: LCAT HGNC NCBI

Linked Data

MyVariant Identifiers: chr16:g.67974197A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67940294A>G , CM000678.2:g.67940294A>G GRCh38
NC_000016.9:g.67974197A>G , CM000678.1:g.67974197A>G GRCh37
NC_000016.8:g.66531698A>G NCBI36
NG_009778.1:g.8819T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000264005.10:c.933T>C MANE Select ENSP00000264005.5:p.Phe311=
ENST00000264005.9:c.933T>C ENSP00000264005.5:p.Phe311=
ENST00000570369.5:c.156-220T>C
ENST00000570980.1:c.717T>C ENSP00000464651.1:p.Phe239=
ENST00000573538.5:c.671T>C ENSP00000463220.1:n.671T>C
NM_000229.1:c.933T>C NP_000220.1:p.Phe311=
NM_000229.2:c.933T>C MANE Select NP_000220.1:p.Phe311=