Canonical Allele Identifier: CA737002228

Gene: PCSK9

Linked Data

• dbSNP Id: rs1392649617
• gnomAD v4: 1-55058469-C-A
• MyVariant Identifiers: chr1:g.55524142C>A (hg19) ; chr1:g.55058469C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55058469C>A , CM000663.2:g.55058469C>A	GRCh38
NC_000001.10:g.55524142C>A , CM000663.1:g.55524142C>A	GRCh37
NC_000001.9:g.55296730C>A	NCBI36
NG_009061.1:g.23923C>A , LRG_275:g.23923C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.1355-30C>A	ENSP00000501161.2:n.1355-30C>A
ENST00000710286.1:c.1712-30C>A	ENSP00000518176.1:n.1712-30C>A
ENST00000673903.1:c.980-30C>A	ENSP00000501257.1:n.980-30C>A
ENST00000673913.1:c.95-30C>A	ENSP00000501161.1:n.95-30C>A
ENST00000302118.5:c.1355-30C>A MANE Select	ENSP00000303208.5:n.1355-30C>A
ENST00000490692.1:n.2079-30C>A
NM_174936.3:c.1355-30C>A , LRG_275t1:c.1355-30C>A	NP_777596.2:n.1355-30C>A
NR_110451.1:n.962-30C>A
XM_011541193.1:c.476-30C>A	XP_011539495.1:n.476-30C>A
NM_174936.4:c.1355-30C>A MANE Select	NP_777596.2:n.1355-30C>A
NR_110451.2:n.962-30C>A