Canonical Allele Identifier: CA340480498
Gene: PCSK9 HGNC NCBI

Linked Data

gnomAD v4: 1-55061539-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.55061539C>A , CM000663.2:g.55061539C>A GRCh38
NC_000001.10:g.55527212C>A , CM000663.1:g.55527212C>A GRCh37
NC_000001.9:g.55299800C>A NCBI36
NG_009061.1:g.26993C>A , LRG_275:g.26993C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000673913.2:c.*186C>A ENSP00000501161.2:n.*186C>A
ENST00000710286.1:c.2203C>A ENSP00000518176.1:p.Pro735Thr
ENST00000673903.1:c.1471C>A ENSP00000501257.1:p.Pro491Thr
ENST00000673913.1:c.696C>A ENSP00000501161.1:n.696C>A
ENST00000302118.5:c.1846C>A MANE Select ENSP00000303208.5:p.Pro616Thr
ENST00000490692.1:n.2392C>A
NM_174936.3:c.1846C>A , LRG_275t1:c.1846C>A NP_777596.2:p.Pro616Thr
NR_110451.1:n.1453C>A
XM_011541193.1:c.967C>A XP_011539495.1:p.Pro323Thr
NM_174936.4:c.1846C>A MANE Select NP_777596.2:p.Pro616Thr
NR_110451.2:n.1453C>A