Canonical Allele Identifier: CA340480628

Gene: PCSK9

Linked Data

• MyVariant Identifiers: chr1:g.55529083C>A (hg19) ; chr1:g.55063410C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55063410C>A , CM000663.2:g.55063410C>A	GRCh38
NC_000001.10:g.55529083C>A , CM000663.1:g.55529083C>A	GRCh37
NC_000001.9:g.55301671C>A	NCBI36
NG_009061.1:g.28864C>A , LRG_275:g.28864C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.*245C>A	ENSP00000501161.2:n.*245C>A
ENST00000710286.1:c.2262C>A	ENSP00000518176.1:p.Cys754Ter
ENST00000673903.1:c.1530C>A	ENSP00000501257.1:p.Cys510Ter
ENST00000673913.1:c.755C>A	ENSP00000501161.1:n.755C>A
ENST00000302118.5:c.1905C>A MANE Select	ENSP00000303208.5:p.Cys635Ter
ENST00000490692.1:n.2451C>A
NM_174936.3:c.1905C>A , LRG_275t1:c.1905C>A	NP_777596.2:p.Cys635Ter
NR_110451.1:n.1512C>A
XM_011541193.1:c.1026C>A	XP_011539495.1:p.Cys342Ter
NM_174936.4:c.1905C>A MANE Select	NP_777596.2:p.Cys635Ter
NR_110451.2:n.1512C>A