Canonical Allele Identifier: CA039376

Gene: PCSK9

Linked Data

• dbSNP Id: rs770206660
• ExAC: 1:55529026 C / T
• gnomAD v2: 1-55529026-C-T
• gnomAD v3: 1-55063353-C-T
• gnomAD v4: 1-55063353-C-T
• MyVariant Identifiers: chr1:g.55529026C>T (hg19) ; chr1:g.55063353C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55063353C>T , CM000663.2:g.55063353C>T	GRCh38
NC_000001.10:g.55529026C>T , CM000663.1:g.55529026C>T	GRCh37
NC_000001.9:g.55301614C>T	NCBI36
NG_009061.1:g.28807C>T , LRG_275:g.28807C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.*204-16C>T	ENSP00000501161.2:n.*204-16C>T
ENST00000710286.1:c.2221-16C>T	ENSP00000518176.1:n.2221-16C>T
ENST00000673903.1:c.1489-16C>T	ENSP00000501257.1:n.1489-16C>T
ENST00000673913.1:c.714-16C>T	ENSP00000501161.1:n.714-16C>T
ENST00000302118.5:c.1864-16C>T MANE Select	ENSP00000303208.5:n.1864-16C>T
ENST00000490692.1:n.2410-16C>T
NM_174936.3:c.1864-16C>T , LRG_275t1:c.1864-16C>T	NP_777596.2:n.1864-16C>T
NR_110451.1:n.1471-16C>T
XM_011541193.1:c.985-16C>T	XP_011539495.1:n.985-16C>T
NM_174936.4:c.1864-16C>T MANE Select	NP_777596.2:n.1864-16C>T
NR_110451.2:n.1471-16C>T