Canonical Allele Identifier: CA340479743

Gene: PCSK9

Linked Data

• gnomAD v4: 1-55059522-G-T
• COSMIC: COSM399889
• MyVariant Identifiers: chr1:g.55525195G>T (hg19) ; chr1:g.55059522G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55059522G>T , CM000663.2:g.55059522G>T	GRCh38
NC_000001.10:g.55525195G>T , CM000663.1:g.55525195G>T	GRCh37
NC_000001.9:g.55297783G>T	NCBI36
NG_009061.1:g.24976G>T , LRG_275:g.24976G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.1540G>T	ENSP00000501161.2:p.Ala514Ser
ENST00000710286.1:c.1897G>T	ENSP00000518176.1:p.Ala633Ser
ENST00000673903.1:c.1165G>T	ENSP00000501257.1:p.Ala389Ser
ENST00000673913.1:c.280G>T	ENSP00000501161.1:p.Ala94Ser
ENST00000302118.5:c.1540G>T MANE Select	ENSP00000303208.5:p.Ala514Ser
ENST00000490692.1:n.2227+875G>T
NM_174936.3:c.1540G>T , LRG_275t1:c.1540G>T	NP_777596.2:p.Ala514Ser
NR_110451.1:n.1147G>T
XM_011541193.1:c.661G>T	XP_011539495.1:p.Ala221Ser
NM_174936.4:c.1540G>T MANE Select	NP_777596.2:p.Ala514Ser
NR_110451.2:n.1147G>T