Canonical Allele Identifier: CA040440
Gene: PCSK9 HGNC NCBI

Linked Data

ClinVar Variation Id: 375843
ClinVar RCV Id: RCV000417338 RCV000660749 RCV000775305 RCV001778957 RCV003168612
dbSNP Id: rs533555352
ExAC: 1:55529216 C / T
gnomAD v2: 1-55529216-C-T
gnomAD v3: 1-55063543-C-T
gnomAD v4: 1-55063543-C-T
MyVariant Identifiers: chr1:g.55529216C>T (hg19) chr1:g.55063543C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.55063543C>T , CM000663.2:g.55063543C>T GRCh38
NC_000001.10:g.55529216C>T , CM000663.1:g.55529216C>T GRCh37
NC_000001.9:g.55301804C>T NCBI36
NG_009061.1:g.28997C>T , LRG_275:g.28997C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000673913.2:c.*378C>T ENSP00000501161.2:n.*378C>T
ENST00000710286.1:c.2395C>T ENSP00000518176.1:p.Arg799Trp
ENST00000673903.1:c.1663C>T ENSP00000501257.1:p.Arg555Trp
ENST00000302118.5:c.2038C>T MANE Select ENSP00000303208.5:p.Arg680Trp
ENST00000490692.1:n.2584C>T
NM_174936.3:c.2038C>T , LRG_275t1:c.2038C>T NP_777596.2:p.Arg680Trp
NR_110451.1:n.1645C>T
XM_011541193.1:c.1159C>T XP_011539495.1:p.Arg387Trp
NM_174936.4:c.2038C>T MANE Select NP_777596.2:p.Arg680Trp
NR_110451.2:n.1645C>T
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