Canonical Allele Identifier: CA522961366

Gene: PCSK9

Linked Data

• dbSNP Id: rs1215405058
• gnomAD v2: 1-55525119-C-A
• gnomAD v4: 1-55059446-C-A
• MyVariant Identifiers: chr1:g.55525119C>A (hg19) ; chr1:g.55059446C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55059446C>A , CM000663.2:g.55059446C>A	GRCh38
NC_000001.10:g.55525119C>A , CM000663.1:g.55525119C>A	GRCh37
NC_000001.9:g.55297707C>A	NCBI36
NG_009061.1:g.24900C>A , LRG_275:g.24900C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000673913.2:c.1504-40C>A	ENSP00000501161.2:n.1504-40C>A
ENST00000710286.1:c.1861-40C>A	ENSP00000518176.1:n.1861-40C>A
ENST00000673903.1:c.1129-40C>A	ENSP00000501257.1:n.1129-40C>A
ENST00000673913.1:c.244-40C>A	ENSP00000501161.1:n.244-40C>A
ENST00000302118.5:c.1504-40C>A MANE Select	ENSP00000303208.5:n.1504-40C>A
ENST00000490692.1:n.2227+799C>A
NM_174936.3:c.1504-40C>A , LRG_275t1:c.1504-40C>A	NP_777596.2:n.1504-40C>A
NR_110451.1:n.1111-40C>A
XM_011541193.1:c.625-40C>A	XP_011539495.1:n.625-40C>A
NM_174936.4:c.1504-40C>A MANE Select	NP_777596.2:n.1504-40C>A
NR_110451.2:n.1111-40C>A