Canonical Allele Identifier: CA340480392

Gene: PCSK9

Linked Data

• MyVariant Identifiers: chr1:g.55527165G>C (hg19) ; chr1:g.55061492G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55061492G>C , CM000663.2:g.55061492G>C	GRCh38
NC_000001.10:g.55527165G>C , CM000663.1:g.55527165G>C	GRCh37
NC_000001.9:g.55299753G>C	NCBI36
NG_009061.1:g.26946G>C , LRG_275:g.26946G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.*139G>C	ENSP00000501161.2:n.*139G>C
ENST00000710286.1:c.2156G>C	ENSP00000518176.1:p.Cys719Ser
ENST00000673903.1:c.1424G>C	ENSP00000501257.1:p.Cys475Ser
ENST00000673913.1:c.649G>C	ENSP00000501161.1:n.649G>C
ENST00000302118.5:c.1799G>C MANE Select	ENSP00000303208.5:p.Cys600Ser
ENST00000490692.1:n.2345G>C
NM_174936.3:c.1799G>C , LRG_275t1:c.1799G>C	NP_777596.2:p.Cys600Ser
NR_110451.1:n.1406G>C
XM_011541193.1:c.920G>C	XP_011539495.1:p.Cys307Ser
NM_174936.4:c.1799G>C MANE Select	NP_777596.2:p.Cys600Ser
NR_110451.2:n.1406G>C