Canonical Allele Identifier: CA340480070

Gene: PCSK9

Linked Data

• MyVariant Identifiers: chr1:g.55525310G>C (hg19) ; chr1:g.55059637G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55059637G>C , CM000663.2:g.55059637G>C	GRCh38
NC_000001.10:g.55525310G>C , CM000663.1:g.55525310G>C	GRCh37
NC_000001.9:g.55297898G>C	NCBI36
NG_009061.1:g.25091G>C , LRG_275:g.25091G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.1655G>C	ENSP00000501161.2:p.Cys552Ser
ENST00000710286.1:c.2012G>C	ENSP00000518176.1:p.Cys671Ser
ENST00000673903.1:c.1280G>C	ENSP00000501257.1:p.Cys427Ser
ENST00000673913.1:c.395G>C	ENSP00000501161.1:p.Cys132Ser
ENST00000302118.5:c.1655G>C MANE Select	ENSP00000303208.5:p.Cys552Ser
ENST00000490692.1:n.2227+990G>C
NM_174936.3:c.1655G>C , LRG_275t1:c.1655G>C	NP_777596.2:p.Cys552Ser
NR_110451.1:n.1262G>C
XM_011541193.1:c.776G>C	XP_011539495.1:p.Cys259Ser
NM_174936.4:c.1655G>C MANE Select	NP_777596.2:p.Cys552Ser
NR_110451.2:n.1262G>C