Canonical Allele Identifier: CA22765396

Gene: PCSK9

Linked Data

• dbSNP Id: rs1040994191
• gnomAD v2: 1-55525132-A-G
• gnomAD v4: 1-55059459-A-G
• MyVariant Identifiers: chr1:g.55525132A>G (hg19) ; chr1:g.55059459A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55059459A>G , CM000663.2:g.55059459A>G	GRCh38
NC_000001.10:g.55525132A>G , CM000663.1:g.55525132A>G	GRCh37
NC_000001.9:g.55297720A>G	NCBI36
NG_009061.1:g.24913A>G , LRG_275:g.24913A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000673913.2:c.1504-27A>G	ENSP00000501161.2:n.1504-27A>G
ENST00000710286.1:c.1861-27A>G	ENSP00000518176.1:n.1861-27A>G
ENST00000673903.1:c.1129-27A>G	ENSP00000501257.1:n.1129-27A>G
ENST00000673913.1:c.244-27A>G	ENSP00000501161.1:n.244-27A>G
ENST00000302118.5:c.1504-27A>G MANE Select	ENSP00000303208.5:n.1504-27A>G
ENST00000490692.1:n.2227+812A>G
NM_174936.3:c.1504-27A>G , LRG_275t1:c.1504-27A>G	NP_777596.2:n.1504-27A>G
NR_110451.1:n.1111-27A>G
XM_011541193.1:c.625-27A>G	XP_011539495.1:n.625-27A>G
NM_174936.4:c.1504-27A>G MANE Select	NP_777596.2:n.1504-27A>G
NR_110451.2:n.1111-27A>G