Canonical Allele Identifier: CA340480395

Gene: PCSK9

Linked Data

• MyVariant Identifiers: chr1:g.55527166C>G (hg19) ; chr1:g.55061493C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55061493C>G , CM000663.2:g.55061493C>G	GRCh38
NC_000001.10:g.55527166C>G , CM000663.1:g.55527166C>G	GRCh37
NC_000001.9:g.55299754C>G	NCBI36
NG_009061.1:g.26947C>G , LRG_275:g.26947C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.*140C>G	ENSP00000501161.2:n.*140C>G
ENST00000710286.1:c.2157C>G	ENSP00000518176.1:p.Cys719Trp
ENST00000673903.1:c.1425C>G	ENSP00000501257.1:p.Cys475Trp
ENST00000673913.1:c.650C>G	ENSP00000501161.1:n.650C>G
ENST00000302118.5:c.1800C>G MANE Select	ENSP00000303208.5:p.Cys600Trp
ENST00000490692.1:n.2346C>G
NM_174936.3:c.1800C>G , LRG_275t1:c.1800C>G	NP_777596.2:p.Cys600Trp
NR_110451.1:n.1407C>G
XM_011541193.1:c.921C>G	XP_011539495.1:p.Cys307Trp
NM_174936.4:c.1800C>G MANE Select	NP_777596.2:p.Cys600Trp
NR_110451.2:n.1407C>G