Canonical Allele Identifier: CA340480498

Gene: PCSK9

Linked Data

• gnomAD v4: 1-55061539-C-A
• MyVariant Identifiers: chr1:g.55527212C>A (hg19) ; chr1:g.55061539C>A (hg38)

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