Canonical Allele Identifier: CA417960412

Gene: PCSK9

Linked Data

• gnomAD v4: 1-55059569-A-T
• MyVariant Identifiers: chr1:g.55525242A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55059569A>T , CM000663.2:g.55059569A>T	GRCh38
NC_000001.10:g.55525242A>T , CM000663.1:g.55525242A>T	GRCh37
NC_000001.9:g.55297830A>T	NCBI36
NG_009061.1:g.25023A>T , LRG_275:g.25023A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.1587A>T	ENSP00000501161.2:p.Leu529=
ENST00000710286.1:c.1944A>T	ENSP00000518176.1:p.Leu648=
ENST00000673903.1:c.1212A>T	ENSP00000501257.1:p.Leu404=
ENST00000673913.1:c.327A>T	ENSP00000501161.1:p.Leu109=
ENST00000302118.5:c.1587A>T MANE Select	ENSP00000303208.5:p.Leu529=
ENST00000490692.1:n.2227+922A>T
NM_174936.3:c.1587A>T , LRG_275t1:c.1587A>T	NP_777596.2:p.Leu529=
NR_110451.1:n.1194A>T
XM_011541193.1:c.708A>T	XP_011539495.1:p.Leu236=
NM_174936.4:c.1587A>T MANE Select	NP_777596.2:p.Leu529=
NR_110451.2:n.1194A>T