Canonical Allele Identifier: CA22767294

Gene: PCSK9

Linked Data

• dbSNP Id: rs577345763
• gnomAD v3: 1-55061690-C-G
• gnomAD v4: 1-55061690-C-G
• MyVariant Identifiers: chr1:g.55527363C>G (hg19) ; chr1:g.55061690C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55061690C>G , CM000663.2:g.55061690C>G	GRCh38
NC_000001.10:g.55527363C>G , CM000663.1:g.55527363C>G	GRCh37
NC_000001.9:g.55299951C>G	NCBI36
NG_009061.1:g.27144C>G , LRG_275:g.27144C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.*203+134C>G	ENSP00000501161.2:n.*203+134C>G
ENST00000710286.1:c.2220+134C>G	ENSP00000518176.1:n.2220+134C>G
ENST00000673903.1:c.1488+134C>G	ENSP00000501257.1:n.1488+134C>G
ENST00000673913.1:c.713+134C>G	ENSP00000501161.1:n.713+134C>G
ENST00000302118.5:c.1863+134C>G MANE Select	ENSP00000303208.5:n.1863+134C>G
ENST00000490692.1:n.2409+134C>G
NM_174936.3:c.1863+134C>G , LRG_275t1:c.1863+134C>G	NP_777596.2:n.1863+134C>G
NR_110451.1:n.1470+134C>G
XM_011541193.1:c.984+134C>G	XP_011539495.1:n.984+134C>G
NM_174936.4:c.1863+134C>G MANE Select	NP_777596.2:n.1863+134C>G
NR_110451.2:n.1470+134C>G