Canonical Allele Identifier: CA340480475

Gene: PCSK9

Linked Data

• MyVariant Identifiers: chr1:g.55527201A>C (hg19) ; chr1:g.55061528A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55061528A>C , CM000663.2:g.55061528A>C	GRCh38
NC_000001.10:g.55527201A>C , CM000663.1:g.55527201A>C	GRCh37
NC_000001.9:g.55299789A>C	NCBI36
NG_009061.1:g.26982A>C , LRG_275:g.26982A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.*175A>C	ENSP00000501161.2:n.*175A>C
ENST00000710286.1:c.2192A>C	ENSP00000518176.1:p.Glu731Ala
ENST00000673903.1:c.1460A>C	ENSP00000501257.1:p.Glu487Ala
ENST00000673913.1:c.685A>C	ENSP00000501161.1:n.685A>C
ENST00000302118.5:c.1835A>C MANE Select	ENSP00000303208.5:p.Glu612Ala
ENST00000490692.1:n.2381A>C
NM_174936.3:c.1835A>C , LRG_275t1:c.1835A>C	NP_777596.2:p.Glu612Ala
NR_110451.1:n.1442A>C
XM_011541193.1:c.956A>C	XP_011539495.1:p.Glu319Ala
NM_174936.4:c.1835A>C MANE Select	NP_777596.2:p.Glu612Ala
NR_110451.2:n.1442A>C