Canonical Allele Identifier: CA2695880238
Gene: PCSK9 HGNC NCBI

Linked Data

dbSNP Id: rs2100346055

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.55063840C>G , CM000663.2:g.55063840C>G GRCh38
NC_000001.10:g.55529513C>G , CM000663.1:g.55529513C>G GRCh37
NC_000001.9:g.55302101C>G NCBI36
NG_009061.1:g.29294C>G , LRG_275:g.29294C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000673913.2:c.*675C>G ENSP00000501161.2:n.*675C>G
ENST00000710286.1:c.*256C>G ENSP00000518176.1:n.*256C>G
ENST00000673903.1:c.*256C>G ENSP00000501257.1:n.*256C>G
ENST00000302118.5:c.*256C>G MANE Select ENSP00000303208.5:n.*256C>G
ENST00000490692.1:n.2881C>G
NM_174936.3:c.*256C>G , LRG_275t1:c.*256C>G NP_777596.2:n.*256C>G
NR_110451.1:n.1942C>G
XM_011541193.1:c.*256C>G XP_011539495.1:n.*256C>G
NM_174936.4:c.*256C>G MANE Select NP_777596.2:n.*256C>G
NR_110451.2:n.1942C>G