Canonical Allele Identifier: CA340480030

Gene: PCSK9

Linked Data

• dbSNP Id: rs1644743515
• MyVariant Identifiers: chr1:g.55525291A>G (hg19) ; chr1:g.55059618A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55059618A>G , CM000663.2:g.55059618A>G	GRCh38
NC_000001.10:g.55525291A>G , CM000663.1:g.55525291A>G	GRCh37
NC_000001.9:g.55297879A>G	NCBI36
NG_009061.1:g.25072A>G , LRG_275:g.25072A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.1636A>G	ENSP00000501161.2:p.Met546Val
ENST00000710286.1:c.1993A>G	ENSP00000518176.1:p.Met665Val
ENST00000673903.1:c.1261A>G	ENSP00000501257.1:p.Met421Val
ENST00000673913.1:c.376A>G	ENSP00000501161.1:p.Met126Val
ENST00000302118.5:c.1636A>G MANE Select	ENSP00000303208.5:p.Met546Val
ENST00000490692.1:n.2227+971A>G
NM_174936.3:c.1636A>G , LRG_275t1:c.1636A>G	NP_777596.2:p.Met546Val
NR_110451.1:n.1243A>G
XM_011541193.1:c.757A>G	XP_011539495.1:p.Met253Val
NM_174936.4:c.1636A>G MANE Select	NP_777596.2:p.Met546Val
NR_110451.2:n.1243A>G