Canonical Allele Identifier: CA340480869

Gene: PCSK9

Linked Data

• MyVariant Identifiers: chr1:g.55529209C>G (hg19) ; chr1:g.55063536C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55063536C>G , CM000663.2:g.55063536C>G	GRCh38
NC_000001.10:g.55529209C>G , CM000663.1:g.55529209C>G	GRCh37
NC_000001.9:g.55301797C>G	NCBI36
NG_009061.1:g.28990C>G , LRG_275:g.28990C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.*371C>G	ENSP00000501161.2:n.*371C>G
ENST00000710286.1:c.2388C>G	ENSP00000518176.1:p.Ile796Met
ENST00000673903.1:c.1656C>G	ENSP00000501257.1:p.Ile552Met
ENST00000302118.5:c.2031C>G MANE Select	ENSP00000303208.5:p.Ile677Met
ENST00000490692.1:n.2577C>G
NM_174936.3:c.2031C>G , LRG_275t1:c.2031C>G	NP_777596.2:p.Ile677Met
NR_110451.1:n.1638C>G
XM_011541193.1:c.1152C>G	XP_011539495.1:p.Ile384Met
NM_174936.4:c.2031C>G MANE Select	NP_777596.2:p.Ile677Met
NR_110451.2:n.1638C>G