Canonical Allele Identifier: CA340480384

Gene: PCSK9

Linked Data

• MyVariant Identifiers: chr1:g.55527161T>G (hg19) ; chr1:g.55061488T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55061488T>G , CM000663.2:g.55061488T>G	GRCh38
NC_000001.10:g.55527161T>G , CM000663.1:g.55527161T>G	GRCh37
NC_000001.9:g.55299749T>G	NCBI36
NG_009061.1:g.26942T>G , LRG_275:g.26942T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.*135T>G	ENSP00000501161.2:n.*135T>G
ENST00000710286.1:c.2152T>G	ENSP00000518176.1:p.Ser718Ala
ENST00000673903.1:c.1420T>G	ENSP00000501257.1:p.Ser474Ala
ENST00000673913.1:c.645T>G	ENSP00000501161.1:n.645T>G
ENST00000302118.5:c.1795T>G MANE Select	ENSP00000303208.5:p.Ser599Ala
ENST00000490692.1:n.2341T>G
NM_174936.3:c.1795T>G , LRG_275t1:c.1795T>G	NP_777596.2:p.Ser599Ala
NR_110451.1:n.1402T>G
XM_011541193.1:c.916T>G	XP_011539495.1:p.Ser306Ala
NM_174936.4:c.1795T>G MANE Select	NP_777596.2:p.Ser599Ala
NR_110451.2:n.1402T>G