Canonical Allele Identifier: CA340483869
Gene: PCSK9 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.55044023C>G , CM000663.2:g.55044023C>G GRCh38
NC_000001.10:g.55509696C>G , CM000663.1:g.55509696C>G GRCh37
NC_000001.9:g.55282284C>G NCBI36
NG_009061.1:g.9477C>G , LRG_275:g.9477C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000673913.2:c.388C>G ENSP00000501161.2:p.Leu130Val
ENST00000710286.1:c.745C>G ENSP00000518176.1:p.Leu249Val
ENST00000673662.1:n.58C>G
ENST00000673726.1:c.388C>G ENSP00000501004.1:p.Leu130Val
ENST00000673903.1:c.13C>G ENSP00000501257.1:p.Leu5Val
ENST00000302118.5:c.388C>G MANE Select ENSP00000303208.5:p.Leu130Val
NM_174936.3:c.388C>G , LRG_275t1:c.388C>G NP_777596.2:p.Leu130Val
NR_110451.1:n.182+3620C>G
NM_174936.4:c.388C>G MANE Select NP_777596.2:p.Leu130Val
NR_110451.2:n.182+3620C>G