Canonical Allele Identifier: CA340480964
Gene: PCSK9 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.55529256G>C (hg19) chr1:g.55063583G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.55063583G>C , CM000663.2:g.55063583G>C GRCh38
NC_000001.10:g.55529256G>C , CM000663.1:g.55529256G>C GRCh37
NC_000001.9:g.55301844G>C NCBI36
NG_009061.1:g.29037G>C , LRG_275:g.29037G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000673913.2:c.*418G>C ENSP00000501161.2:n.*418G>C
ENST00000710286.1:c.2435G>C ENSP00000518176.1:p.Ter812Ser
ENST00000673903.1:c.1703G>C ENSP00000501257.1:p.Ter568Ser
ENST00000302118.5:c.2078G>C MANE Select ENSP00000303208.5:p.Ter693Ser
ENST00000490692.1:n.2624G>C
NM_174936.3:c.2078G>C , LRG_275t1:c.2078G>C NP_777596.2:p.Ter693Ser
NR_110451.1:n.1685G>C
XM_011541193.1:c.1199G>C XP_011539495.1:p.Ter400Ser
NM_174936.4:c.2078G>C MANE Select NP_777596.2:p.Ter693Ser
NR_110451.2:n.1685G>C
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