Canonical Allele Identifier: CA340480827

Gene: PCSK9

Linked Data

• dbSNP Id: rs505151
• MyVariant Identifiers: chr1:g.55529187G>C (hg19) ; chr1:g.55063514G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55063514G>C , CM000663.2:g.55063514G>C	GRCh38
NC_000001.10:g.55529187G>C , CM000663.1:g.55529187G>C	GRCh37
NC_000001.9:g.55301775G>C	NCBI36
NG_009061.1:g.28968G>C , LRG_275:g.28968G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000673913.2:c.*349G>C	ENSP00000501161.2:n.*349G>C
ENST00000710286.1:c.2366G>C	ENSP00000518176.1:p.Gly789Ala
ENST00000673903.1:c.1634G>C	ENSP00000501257.1:p.Gly545Ala
ENST00000673913.1:c.859G>C	ENSP00000501161.1:n.859G>C
ENST00000302118.5:c.2009G>C MANE Select	ENSP00000303208.5:p.Gly670Ala
ENST00000490692.1:n.2555G>C
NM_174936.3:c.2009G>C , LRG_275t1:c.2009G>C	NP_777596.2:p.Gly670Ala
NR_110451.1:n.1616G>C
XM_011541193.1:c.1130G>C	XP_011539495.1:p.Gly377Ala
NM_174936.4:c.2009G>C MANE Select	NP_777596.2:p.Gly670Ala
NR_110451.2:n.1616G>C