Canonical Allele Identifier: CA2645841759

Gene: PCSK9

Linked Data

• gnomAD v4: 1-55059796-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55059796T>C , CM000663.2:g.55059796T>C	GRCh38
NC_000001.10:g.55525469T>C , CM000663.1:g.55525469T>C	GRCh37
NC_000001.9:g.55298057T>C	NCBI36
NG_009061.1:g.25250T>C , LRG_275:g.25250T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.1681+133T>C	ENSP00000501161.2:n.1681+133T>C
ENST00000710286.1:c.2038+133T>C	ENSP00000518176.1:n.2038+133T>C
ENST00000673903.1:c.1306+133T>C	ENSP00000501257.1:n.1306+133T>C
ENST00000673913.1:c.421+133T>C	ENSP00000501161.1:n.421+133T>C
ENST00000302118.5:c.1681+133T>C MANE Select	ENSP00000303208.5:n.1681+133T>C
ENST00000490692.1:n.2227+1149T>C
NM_174936.3:c.1681+133T>C , LRG_275t1:c.1681+133T>C	NP_777596.2:n.1681+133T>C
NR_110451.1:n.1288+133T>C
XM_011541193.1:c.802+133T>C	XP_011539495.1:n.802+133T>C
NM_174936.4:c.1681+133T>C MANE Select	NP_777596.2:n.1681+133T>C
NR_110451.2:n.1288+133T>C