Canonical Allele Identifier: CA340480416

Gene: PCSK9

Linked Data

• dbSNP Id: rs1461652205
• gnomAD v2: 1-55527174-C-T
• gnomAD v4: 1-55061501-C-T
• MyVariant Identifiers: chr1:g.55527174C>T (hg19) ; chr1:g.55061501C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55061501C>T , CM000663.2:g.55061501C>T	GRCh38
NC_000001.10:g.55527174C>T , CM000663.1:g.55527174C>T	GRCh37
NC_000001.9:g.55299762C>T	NCBI36
NG_009061.1:g.26955C>T , LRG_275:g.26955C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.*148C>T	ENSP00000501161.2:n.*148C>T
ENST00000710286.1:c.2165C>T	ENSP00000518176.1:p.Ala722Val
ENST00000673903.1:c.1433C>T	ENSP00000501257.1:p.Ala478Val
ENST00000673913.1:c.658C>T	ENSP00000501161.1:n.658C>T
ENST00000302118.5:c.1808C>T MANE Select	ENSP00000303208.5:p.Ala603Val
ENST00000490692.1:n.2354C>T
NM_174936.3:c.1808C>T , LRG_275t1:c.1808C>T	NP_777596.2:p.Ala603Val
NR_110451.1:n.1415C>T
XM_011541193.1:c.929C>T	XP_011539495.1:p.Ala310Val
NM_174936.4:c.1808C>T MANE Select	NP_777596.2:p.Ala603Val
NR_110451.2:n.1415C>T