Canonical Allele Identifier: CA340480439

Gene: PCSK9

Linked Data

• MyVariant Identifiers: chr1:g.55527187A>C (hg19) ; chr1:g.55061514A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55061514A>C , CM000663.2:g.55061514A>C	GRCh38
NC_000001.10:g.55527187A>C , CM000663.1:g.55527187A>C	GRCh37
NC_000001.9:g.55299775A>C	NCBI36
NG_009061.1:g.26968A>C , LRG_275:g.26968A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.*161A>C	ENSP00000501161.2:n.*161A>C
ENST00000710286.1:c.2178A>C	ENSP00000518176.1:p.Glu726Asp
ENST00000673903.1:c.1446A>C	ENSP00000501257.1:p.Glu482Asp
ENST00000673913.1:c.671A>C	ENSP00000501161.1:n.671A>C
ENST00000302118.5:c.1821A>C MANE Select	ENSP00000303208.5:p.Glu607Asp
ENST00000490692.1:n.2367A>C
NM_174936.3:c.1821A>C , LRG_275t1:c.1821A>C	NP_777596.2:p.Glu607Asp
NR_110451.1:n.1428A>C
XM_011541193.1:c.942A>C	XP_011539495.1:p.Glu314Asp
NM_174936.4:c.1821A>C MANE Select	NP_777596.2:p.Glu607Asp
NR_110451.2:n.1428A>C