Canonical Allele Identifier: CA039776
Gene: PCSK9 HGNC NCBI

Linked Data

ClinVar Variation Id: 927111
ClinVar RCV Id: RCV001190132 RCV004010414
dbSNP Id: rs141438059
ExAC: 1:55529117 G / T
gnomAD v2: 1-55529117-G-T
gnomAD v3: 1-55063444-G-T
gnomAD v4: 1-55063444-G-T
MyVariant Identifiers: chr1:g.55529117G>T (hg19) chr1:g.55063444G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.55063444G>T , CM000663.2:g.55063444G>T GRCh38
NC_000001.10:g.55529117G>T , CM000663.1:g.55529117G>T GRCh37
NC_000001.9:g.55301705G>T NCBI36
NG_009061.1:g.28898G>T , LRG_275:g.28898G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000673913.2:c.*279G>T ENSP00000501161.2:n.*279G>T
ENST00000710286.1:c.2296G>T ENSP00000518176.1:p.Ala766Ser
ENST00000673903.1:c.1564G>T ENSP00000501257.1:p.Ala522Ser
ENST00000673913.1:c.789G>T ENSP00000501161.1:n.789G>T
ENST00000302118.5:c.1939G>T MANE Select ENSP00000303208.5:p.Ala647Ser
ENST00000490692.1:n.2485G>T
NM_174936.3:c.1939G>T , LRG_275t1:c.1939G>T NP_777596.2:p.Ala647Ser
NR_110451.1:n.1546G>T
XM_011541193.1:c.1060G>T XP_011539495.1:p.Ala354Ser
NM_174936.4:c.1939G>T MANE Select NP_777596.2:p.Ala647Ser
NR_110451.2:n.1546G>T
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