Canonical Allele Identifier: CA2645841720

Gene: PCSK9

Linked Data

• gnomAD v4: 1-55059779-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55059779G>C , CM000663.2:g.55059779G>C	GRCh38
NC_000001.10:g.55525452G>C , CM000663.1:g.55525452G>C	GRCh37
NC_000001.9:g.55298040G>C	NCBI36
NG_009061.1:g.25233G>C , LRG_275:g.25233G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.1681+116G>C	ENSP00000501161.2:n.1681+116G>C
ENST00000710286.1:c.2038+116G>C	ENSP00000518176.1:n.2038+116G>C
ENST00000673903.1:c.1306+116G>C	ENSP00000501257.1:n.1306+116G>C
ENST00000673913.1:c.421+116G>C	ENSP00000501161.1:n.421+116G>C
ENST00000302118.5:c.1681+116G>C MANE Select	ENSP00000303208.5:n.1681+116G>C
ENST00000490692.1:n.2227+1132G>C
NM_174936.3:c.1681+116G>C , LRG_275t1:c.1681+116G>C	NP_777596.2:n.1681+116G>C
NR_110451.1:n.1288+116G>C
XM_011541193.1:c.802+116G>C	XP_011539495.1:n.802+116G>C
NM_174936.4:c.1681+116G>C MANE Select	NP_777596.2:n.1681+116G>C
NR_110451.2:n.1288+116G>C