Canonical Allele Identifier: CA418180827

Gene: PCSK9

Linked Data

• MyVariant Identifiers: chr1:g.55517979C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55052306C>G , CM000663.2:g.55052306C>G	GRCh38
NC_000001.10:g.55517979C>G , CM000663.1:g.55517979C>G	GRCh37
NC_000001.9:g.55290567C>G	NCBI36
NG_009061.1:g.17760C>G , LRG_275:g.17760C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000673913.2:c.552C>G	ENSP00000501161.2:p.Leu184=
ENST00000710286.1:c.909C>G	ENSP00000518176.1:p.Leu303=
ENST00000673726.1:c.*48C>G	ENSP00000501004.1:n.*48C>G
ENST00000673903.1:c.177C>G	ENSP00000501257.1:p.Leu59=
ENST00000302118.5:c.552C>G MANE Select	ENSP00000303208.5:p.Leu184=
ENST00000490692.1:n.1373C>G
NM_174936.3:c.552C>G , LRG_275t1:c.552C>G	NP_777596.2:p.Leu184=
NR_110451.1:n.211C>G
NM_174936.4:c.552C>G MANE Select	NP_777596.2:p.Leu184=
NR_110451.2:n.211C>G