Canonical Allele Identifier: CA039150

Gene: PCSK9

Linked Data

• ClinVar Variation Id: 924579
• ClinVar RCV Id: RCV001185961
• dbSNP Id: rs142118418
• ExAC: 1:55527221 C / T
• gnomAD v2: 1-55527221-C-T
• gnomAD v3: 1-55061548-C-T
• gnomAD v4: 1-55061548-C-T
• MyVariant Identifiers: chr1:g.55527221C>T (hg19) ; chr1:g.55061548C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55061548C>T , CM000663.2:g.55061548C>T	GRCh38
NC_000001.10:g.55527221C>T , CM000663.1:g.55527221C>T	GRCh37
NC_000001.9:g.55299809C>T	NCBI36
NG_009061.1:g.27002C>T , LRG_275:g.27002C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.*195C>T	ENSP00000501161.2:n.*195C>T
ENST00000710286.1:c.2212C>T	ENSP00000518176.1:p.Gln738Ter
ENST00000673903.1:c.1480C>T	ENSP00000501257.1:p.Gln494Ter
ENST00000673913.1:c.705C>T	ENSP00000501161.1:n.705C>T
ENST00000302118.5:c.1855C>T MANE Select	ENSP00000303208.5:p.Gln619Ter
ENST00000490692.1:n.2401C>T
NM_174936.3:c.1855C>T , LRG_275t1:c.1855C>T	NP_777596.2:p.Gln619Ter
NR_110451.1:n.1462C>T
XM_011541193.1:c.976C>T	XP_011539495.1:p.Gln326Ter
NM_174936.4:c.1855C>T MANE Select	NP_777596.2:p.Gln619Ter
NR_110451.2:n.1462C>T