Canonical Allele Identifier: CA340478876

Gene: PCSK9

Linked Data

• gnomAD v4: 1-55058558-A-T
• MyVariant Identifiers: chr1:g.55524231A>T (hg19) ; chr1:g.55058558A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55058558A>T , CM000663.2:g.55058558A>T	GRCh38
NC_000001.10:g.55524231A>T , CM000663.1:g.55524231A>T	GRCh37
NC_000001.9:g.55296819A>T	NCBI36
NG_009061.1:g.24012A>T , LRG_275:g.24012A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000673913.2:c.1414A>T	ENSP00000501161.2:p.Thr472Ser
ENST00000710286.1:c.1771A>T	ENSP00000518176.1:p.Thr591Ser
ENST00000673903.1:c.1039A>T	ENSP00000501257.1:p.Thr347Ser
ENST00000673913.1:c.154A>T	ENSP00000501161.1:p.Thr52Ser
ENST00000302118.5:c.1414A>T MANE Select	ENSP00000303208.5:p.Thr472Ser
ENST00000490692.1:n.2138A>T
NM_174936.3:c.1414A>T , LRG_275t1:c.1414A>T	NP_777596.2:p.Thr472Ser
NR_110451.1:n.1021A>T
XM_011541193.1:c.535A>T	XP_011539495.1:p.Thr179Ser
NM_174936.4:c.1414A>T MANE Select	NP_777596.2:p.Thr472Ser
NR_110451.2:n.1021A>T