Canonical Allele Identifier: CA340480375

Gene: PCSK9

Linked Data

• MyVariant Identifiers: chr1:g.55527157C>A (hg19) ; chr1:g.55061484C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55061484C>A , CM000663.2:g.55061484C>A	GRCh38
NC_000001.10:g.55527157C>A , CM000663.1:g.55527157C>A	GRCh37
NC_000001.9:g.55299745C>A	NCBI36
NG_009061.1:g.26938C>A , LRG_275:g.26938C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.*131C>A	ENSP00000501161.2:n.*131C>A
ENST00000710286.1:c.2148C>A	ENSP00000518176.1:p.His716Gln
ENST00000673903.1:c.1416C>A	ENSP00000501257.1:p.His472Gln
ENST00000673913.1:c.641C>A	ENSP00000501161.1:n.641C>A
ENST00000302118.5:c.1791C>A MANE Select	ENSP00000303208.5:p.His597Gln
ENST00000490692.1:n.2337C>A
NM_174936.3:c.1791C>A , LRG_275t1:c.1791C>A	NP_777596.2:p.His597Gln
NR_110451.1:n.1398C>A
XM_011541193.1:c.912C>A	XP_011539495.1:p.His304Gln
NM_174936.4:c.1791C>A MANE Select	NP_777596.2:p.His597Gln
NR_110451.2:n.1398C>A