Canonical Allele Identifier: CA340480378

Gene: PCSK9

Linked Data

• ClinVar Variation Id: 961681
• ClinVar RCV Id: RCV001235414
• dbSNP Id: rs367606156
• MyVariant Identifiers: chr1:g.55527158G>T (hg19) ; chr1:g.55061485G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55061485G>T , CM000663.2:g.55061485G>T	GRCh38
NC_000001.10:g.55527158G>T , CM000663.1:g.55527158G>T	GRCh37
NC_000001.9:g.55299746G>T	NCBI36
NG_009061.1:g.26939G>T , LRG_275:g.26939G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.*132G>T	ENSP00000501161.2:n.*132G>T
ENST00000710286.1:c.2149G>T	ENSP00000518176.1:p.Ala717Ser
ENST00000673903.1:c.1417G>T	ENSP00000501257.1:p.Ala473Ser
ENST00000673913.1:c.642G>T	ENSP00000501161.1:n.642G>T
ENST00000302118.5:c.1792G>T MANE Select	ENSP00000303208.5:p.Ala598Ser
ENST00000490692.1:n.2338G>T
NM_174936.3:c.1792G>T , LRG_275t1:c.1792G>T	NP_777596.2:p.Ala598Ser
NR_110451.1:n.1399G>T
XM_011541193.1:c.913G>T	XP_011539495.1:p.Ala305Ser
NM_174936.4:c.1792G>T MANE Select	NP_777596.2:p.Ala598Ser
NR_110451.2:n.1399G>T