Canonical Allele Identifier: CA116424
Gene: LCAT HGNC NCBI

Linked Data

ClinVar Variation Id: 3669
ClinVar RCV Id: RCV000003854
dbSNP Id: rs794726663
MyVariant Identifiers: chr16:g.67973933dupT (hg19) chr16:g.67973932_67973933insT (hg19) chr16:g.67940030dupT (hg38) chr16:g.67940029_67940030insT (hg38)
PubMed: PMID:8432868
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67940030dup , CM000678.2:g.67940030dup GRCh38
NC_000016.9:g.67973933dup , CM000678.1:g.67973933dup GRCh37
NC_000016.8:g.66531434dup NCBI36
NG_009778.1:g.9083dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000264005.10:c.1197dup MANE Select ENSP00000264005.5:p.Gln400ThrfsTer?
ENST00000264005.9:c.1197dup ENSP00000264005.5:p.Gln400ThrfsTer?
ENST00000570369.5:c.200dup
ENST00000573538.5:c.935dup ENSP00000463220.1:n.935dup
NM_000229.1:c.1197dup NP_000220.1:p.Gln400ThrfsTer?
NM_000229.2:c.1197dup MANE Select NP_000220.1:p.Gln400ThrfsTer?
Search 100 bp 5'
Search 100 bp 3'