Canonical Allele Identifier: CA340480809

Gene: PCSK9

Linked Data

• dbSNP Id: rs1644778398
• MyVariant Identifiers: chr1:g.55529178C>G (hg19) ; chr1:g.55063505C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55063505C>G , CM000663.2:g.55063505C>G	GRCh38
NC_000001.10:g.55529178C>G , CM000663.1:g.55529178C>G	GRCh37
NC_000001.9:g.55301766C>G	NCBI36
NG_009061.1:g.28959C>G , LRG_275:g.28959C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.*340C>G	ENSP00000501161.2:n.*340C>G
ENST00000710286.1:c.2357C>G	ENSP00000518176.1:p.Thr786Ser
ENST00000673903.1:c.1625C>G	ENSP00000501257.1:p.Thr542Ser
ENST00000673913.1:c.850C>G	ENSP00000501161.1:n.850C>G
ENST00000302118.5:c.2000C>G MANE Select	ENSP00000303208.5:p.Thr667Ser
ENST00000490692.1:n.2546C>G
NM_174936.3:c.2000C>G , LRG_275t1:c.2000C>G	NP_777596.2:p.Thr667Ser
NR_110451.1:n.1607C>G
XM_011541193.1:c.1121C>G	XP_011539495.1:p.Thr374Ser
NM_174936.4:c.2000C>G MANE Select	NP_777596.2:p.Thr667Ser
NR_110451.2:n.1607C>G