Canonical Allele Identifier: CA417960438

Gene: PCSK9

Linked Data

• gnomAD v4: 1-55059608-T-G
• MyVariant Identifiers: chr1:g.55525281T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55059608T>G , CM000663.2:g.55059608T>G	GRCh38
NC_000001.10:g.55525281T>G , CM000663.1:g.55525281T>G	GRCh37
NC_000001.9:g.55297869T>G	NCBI36
NG_009061.1:g.25062T>G , LRG_275:g.25062T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.1626T>G	ENSP00000501161.2:p.Ala542=
ENST00000710286.1:c.1983T>G	ENSP00000518176.1:p.Ala661=
ENST00000673903.1:c.1251T>G	ENSP00000501257.1:p.Ala417=
ENST00000673913.1:c.366T>G	ENSP00000501161.1:p.Ala122=
ENST00000302118.5:c.1626T>G MANE Select	ENSP00000303208.5:p.Ala542=
ENST00000490692.1:n.2227+961T>G
NM_174936.3:c.1626T>G , LRG_275t1:c.1626T>G	NP_777596.2:p.Ala542=
NR_110451.1:n.1233T>G
XM_011541193.1:c.747T>G	XP_011539495.1:p.Ala249=
NM_174936.4:c.1626T>G MANE Select	NP_777596.2:p.Ala542=
NR_110451.2:n.1233T>G