Canonical Allele Identifier: CA417960544

Gene: PCSK9

Linked Data

• dbSNP Id: rs1644758624
• MyVariant Identifiers: chr1:g.55527160T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55061487T>C , CM000663.2:g.55061487T>C	GRCh38
NC_000001.10:g.55527160T>C , CM000663.1:g.55527160T>C	GRCh37
NC_000001.9:g.55299748T>C	NCBI36
NG_009061.1:g.26941T>C , LRG_275:g.26941T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.*134T>C	ENSP00000501161.2:n.*134T>C
ENST00000710286.1:c.2151T>C	ENSP00000518176.1:p.Ala717=
ENST00000673903.1:c.1419T>C	ENSP00000501257.1:p.Ala473=
ENST00000673913.1:c.644T>C	ENSP00000501161.1:n.644T>C
ENST00000302118.5:c.1794T>C MANE Select	ENSP00000303208.5:p.Ala598=
ENST00000490692.1:n.2340T>C
NM_174936.3:c.1794T>C , LRG_275t1:c.1794T>C	NP_777596.2:p.Ala598=
NR_110451.1:n.1401T>C
XM_011541193.1:c.915T>C	XP_011539495.1:p.Ala305=
NM_174936.4:c.1794T>C MANE Select	NP_777596.2:p.Ala598=
NR_110451.2:n.1401T>C