Canonical Allele Identifier: CA340480034

Gene: PCSK9

Linked Data

• gnomAD v4: 1-55059619-T-G
• MyVariant Identifiers: chr1:g.55525292T>G (hg19) ; chr1:g.55059619T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55059619T>G , CM000663.2:g.55059619T>G	GRCh38
NC_000001.10:g.55525292T>G , CM000663.1:g.55525292T>G	GRCh37
NC_000001.9:g.55297880T>G	NCBI36
NG_009061.1:g.25073T>G , LRG_275:g.25073T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.1637T>G	ENSP00000501161.2:p.Met546Arg
ENST00000710286.1:c.1994T>G	ENSP00000518176.1:p.Met665Arg
ENST00000673903.1:c.1262T>G	ENSP00000501257.1:p.Met421Arg
ENST00000673913.1:c.377T>G	ENSP00000501161.1:p.Met126Arg
ENST00000302118.5:c.1637T>G MANE Select	ENSP00000303208.5:p.Met546Arg
ENST00000490692.1:n.2227+972T>G
NM_174936.3:c.1637T>G , LRG_275t1:c.1637T>G	NP_777596.2:p.Met546Arg
NR_110451.1:n.1244T>G
XM_011541193.1:c.758T>G	XP_011539495.1:p.Met253Arg
NM_174936.4:c.1637T>G MANE Select	NP_777596.2:p.Met546Arg
NR_110451.2:n.1244T>G