Canonical Allele Identifier: CA22768572
Gene: PCSK9 HGNC NCBI

Linked Data

dbSNP Id: rs896285434
MyVariant Identifiers: chr1:g.55529247A>C (hg19) chr1:g.55063574A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.55063574A>C , CM000663.2:g.55063574A>C GRCh38
NC_000001.10:g.55529247A>C , CM000663.1:g.55529247A>C GRCh37
NC_000001.9:g.55301835A>C NCBI36
NG_009061.1:g.29028A>C , LRG_275:g.29028A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000673913.2:c.*409A>C ENSP00000501161.2:n.*409A>C
ENST00000710286.1:c.2426A>C ENSP00000518176.1:p.Glu809Ala
ENST00000673903.1:c.1694A>C ENSP00000501257.1:p.Glu565Ala
ENST00000302118.5:c.2069A>C MANE Select ENSP00000303208.5:p.Glu690Ala
ENST00000490692.1:n.2615A>C
NM_174936.3:c.2069A>C , LRG_275t1:c.2069A>C NP_777596.2:p.Glu690Ala
NR_110451.1:n.1676A>C
XM_011541193.1:c.1190A>C XP_011539495.1:p.Glu397Ala
NM_174936.4:c.2069A>C MANE Select NP_777596.2:p.Glu690Ala
NR_110451.2:n.1676A>C
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