Canonical Allele Identifier: CA340480377

Gene: PCSK9

Linked Data

• MyVariant Identifiers: chr1:g.55527158G>C (hg19) ; chr1:g.55061485G>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.*132G>C	ENSP00000501161.2:n.*132G>C
ENST00000710286.1:c.2149G>C	ENSP00000518176.1:p.Ala717Pro
ENST00000673903.1:c.1417G>C	ENSP00000501257.1:p.Ala473Pro
ENST00000673913.1:c.642G>C	ENSP00000501161.1:n.642G>C
ENST00000302118.5:c.1792G>C MANE Select	ENSP00000303208.5:p.Ala598Pro
ENST00000490692.1:n.2338G>C
NM_174936.3:c.1792G>C , LRG_275t1:c.1792G>C	NP_777596.2:p.Ala598Pro
NR_110451.1:n.1399G>C
XM_011541193.1:c.913G>C	XP_011539495.1:p.Ala305Pro
NM_174936.4:c.1792G>C MANE Select	NP_777596.2:p.Ala598Pro
NR_110451.2:n.1399G>C