Canonical Allele Identifier: CA340480316

Gene: PCSK9

Linked Data

• ClinVar Variation Id: 3075028
• ClinVar RCV Id: RCV004015554
• MyVariant Identifiers: chr1:g.55527130C>A (hg19) ; chr1:g.55061457C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55061457C>A , CM000663.2:g.55061457C>A	GRCh38
NC_000001.10:g.55527130C>A , CM000663.1:g.55527130C>A	GRCh37
NC_000001.9:g.55299718C>A	NCBI36
NG_009061.1:g.26911C>A , LRG_275:g.26911C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.*104C>A	ENSP00000501161.2:n.*104C>A
ENST00000710286.1:c.2121C>A	ENSP00000518176.1:p.Cys707Ter
ENST00000673903.1:c.1389C>A	ENSP00000501257.1:p.Cys463Ter
ENST00000673913.1:c.614C>A	ENSP00000501161.1:n.614C>A
ENST00000302118.5:c.1764C>A MANE Select	ENSP00000303208.5:p.Cys588Ter
ENST00000490692.1:n.2310C>A
NM_174936.3:c.1764C>A , LRG_275t1:c.1764C>A	NP_777596.2:p.Cys588Ter
NR_110451.1:n.1371C>A
XM_011541193.1:c.885C>A	XP_011539495.1:p.Cys295Ter
NM_174936.4:c.1764C>A MANE Select	NP_777596.2:p.Cys588Ter
NR_110451.2:n.1371C>A