Canonical Allele Identifier: CA340480459

Gene: PCSK9

Linked Data

• MyVariant Identifiers: chr1:g.55527194G>T (hg19) ; chr1:g.55061521G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55061521G>T , CM000663.2:g.55061521G>T	GRCh38
NC_000001.10:g.55527194G>T , CM000663.1:g.55527194G>T	GRCh37
NC_000001.9:g.55299782G>T	NCBI36
NG_009061.1:g.26975G>T , LRG_275:g.26975G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.*168G>T	ENSP00000501161.2:n.*168G>T
ENST00000710286.1:c.2185G>T	ENSP00000518176.1:p.Val729Phe
ENST00000673903.1:c.1453G>T	ENSP00000501257.1:p.Val485Phe
ENST00000673913.1:c.678G>T	ENSP00000501161.1:n.678G>T
ENST00000302118.5:c.1828G>T MANE Select	ENSP00000303208.5:p.Val610Phe
ENST00000490692.1:n.2374G>T
NM_174936.3:c.1828G>T , LRG_275t1:c.1828G>T	NP_777596.2:p.Val610Phe
NR_110451.1:n.1435G>T
XM_011541193.1:c.949G>T	XP_011539495.1:p.Val317Phe
NM_174936.4:c.1828G>T MANE Select	NP_777596.2:p.Val610Phe
NR_110451.2:n.1435G>T