Canonical Allele Identifier: CA340480035

Gene: PCSK9

Linked Data

• gnomAD v4: 1-55059620-G-T
• MyVariant Identifiers: chr1:g.55525293G>T (hg19) ; chr1:g.55059620G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55059620G>T , CM000663.2:g.55059620G>T	GRCh38
NC_000001.10:g.55525293G>T , CM000663.1:g.55525293G>T	GRCh37
NC_000001.9:g.55297881G>T	NCBI36
NG_009061.1:g.25074G>T , LRG_275:g.25074G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.1638G>T	ENSP00000501161.2:p.Met546Ile
ENST00000710286.1:c.1995G>T	ENSP00000518176.1:p.Met665Ile
ENST00000673903.1:c.1263G>T	ENSP00000501257.1:p.Met421Ile
ENST00000673913.1:c.378G>T	ENSP00000501161.1:p.Met126Ile
ENST00000302118.5:c.1638G>T MANE Select	ENSP00000303208.5:p.Met546Ile
ENST00000490692.1:n.2227+973G>T
NM_174936.3:c.1638G>T , LRG_275t1:c.1638G>T	NP_777596.2:p.Met546Ile
NR_110451.1:n.1245G>T
XM_011541193.1:c.759G>T	XP_011539495.1:p.Met253Ile
NM_174936.4:c.1638G>T MANE Select	NP_777596.2:p.Met546Ile
NR_110451.2:n.1245G>T