Canonical Allele Identifier: CA1139656140

Gene: PCSK9

Linked Data

• ClinVar Variation Id: 921865
• ClinVar RCV Id: RCV001181524
• dbSNP Id: rs1644734137

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55058564_55058566delinsATT , CM000663.2:g.55058564_55058566delinsATT	GRCh38
NC_000001.10:g.55524237_55524239delinsATT , CM000663.1:g.55524237_55524239delinsATT	GRCh37
NC_000001.9:g.55296825_55296827delinsATT	NCBI36
NG_009061.1:g.24018_24020delinsATT , LRG_275:g.24018_24020delinsATT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.1420_1422delinsATT	ENSP00000501161.2:p.Val474Ile
ENST00000710286.1:c.1777_1779delinsATT	ENSP00000518176.1:p.Val593Ile
ENST00000673903.1:c.1045_1047delinsATT	ENSP00000501257.1:p.Val349Ile
ENST00000673913.1:c.160_162delinsATT	ENSP00000501161.1:p.Val54Ile
ENST00000302118.5:c.1420_1422delinsATT MANE Select	ENSP00000303208.5:p.Val474Ile
ENST00000490692.1:n.2144_2146delinsATT
NM_174936.3:c.1420_1422delinsATT , LRG_275t1:c.1420_1422delinsATT	NP_777596.2:p.Val474Ile
NR_110451.1:n.1027_1029delinsATT
XM_011541193.1:c.541_543delinsATT	XP_011539495.1:p.Val181Ile
NM_174936.4:c.1420_1422delinsATT MANE Select	NP_777596.2:p.Val474Ile
NR_110451.2:n.1027_1029delinsATT