Canonical Allele Identifier: CA340480778

Gene: PCSK9

Linked Data

• gnomAD v4: 1-55063490-G-A
• MyVariant Identifiers: chr1:g.55529163G>A (hg19) ; chr1:g.55063490G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55063490G>A , CM000663.2:g.55063490G>A	GRCh38
NC_000001.10:g.55529163G>A , CM000663.1:g.55529163G>A	GRCh37
NC_000001.9:g.55301751G>A	NCBI36
NG_009061.1:g.28944G>A , LRG_275:g.28944G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.*325G>A	ENSP00000501161.2:n.*325G>A
ENST00000710286.1:c.2342G>A	ENSP00000518176.1:p.Ser781Asn
ENST00000673903.1:c.1610G>A	ENSP00000501257.1:p.Ser537Asn
ENST00000673913.1:c.835G>A	ENSP00000501161.1:n.835G>A
ENST00000302118.5:c.1985G>A MANE Select	ENSP00000303208.5:p.Ser662Asn
ENST00000490692.1:n.2531G>A
NM_174936.3:c.1985G>A , LRG_275t1:c.1985G>A	NP_777596.2:p.Ser662Asn
NR_110451.1:n.1592G>A
XM_011541193.1:c.1106G>A	XP_011539495.1:p.Ser369Asn
NM_174936.4:c.1985G>A MANE Select	NP_777596.2:p.Ser662Asn
NR_110451.2:n.1592G>A