Canonical Allele Identifier: CA2645840911

Gene: PCSK9

Linked Data

• gnomAD v4: 1-55063870-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55063870C>T , CM000663.2:g.55063870C>T	GRCh38
NC_000001.10:g.55529543C>T , CM000663.1:g.55529543C>T	GRCh37
NC_000001.9:g.55302131C>T	NCBI36
NG_009061.1:g.29324C>T , LRG_275:g.29324C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.*705C>T	ENSP00000501161.2:n.*705C>T
ENST00000710286.1:c.*286C>T	ENSP00000518176.1:n.*286C>T
ENST00000673903.1:c.*286C>T	ENSP00000501257.1:n.*286C>T
ENST00000302118.5:c.*286C>T MANE Select	ENSP00000303208.5:n.*286C>T
ENST00000490692.1:n.2911C>T
NM_174936.3:c.*286C>T , LRG_275t1:c.*286C>T	NP_777596.2:n.*286C>T
NR_110451.1:n.1972C>T
XM_011541193.1:c.*286C>T	XP_011539495.1:n.*286C>T
NM_174936.4:c.*286C>T MANE Select	NP_777596.2:n.*286C>T
NR_110451.2:n.1972C>T