Canonical Allele Identifier: CA2645841539

Gene: PCSK9

Linked Data

• gnomAD v4: 1-55059717-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55059717C>T , CM000663.2:g.55059717C>T	GRCh38
NC_000001.10:g.55525390C>T , CM000663.1:g.55525390C>T	GRCh37
NC_000001.9:g.55297978C>T	NCBI36
NG_009061.1:g.25171C>T , LRG_275:g.25171C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.1681+54C>T	ENSP00000501161.2:n.1681+54C>T
ENST00000710286.1:c.2038+54C>T	ENSP00000518176.1:n.2038+54C>T
ENST00000673903.1:c.1306+54C>T	ENSP00000501257.1:n.1306+54C>T
ENST00000673913.1:c.421+54C>T	ENSP00000501161.1:n.421+54C>T
ENST00000302118.5:c.1681+54C>T MANE Select	ENSP00000303208.5:n.1681+54C>T
ENST00000490692.1:n.2227+1070C>T
NM_174936.3:c.1681+54C>T , LRG_275t1:c.1681+54C>T	NP_777596.2:n.1681+54C>T
NR_110451.1:n.1288+54C>T
XM_011541193.1:c.802+54C>T	XP_011539495.1:n.802+54C>T
NM_174936.4:c.1681+54C>T MANE Select	NP_777596.2:n.1681+54C>T
NR_110451.2:n.1288+54C>T