Canonical Allele Identifier: CA340483815
Gene: PCSK9 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.55043997G>T , CM000663.2:g.55043997G>T GRCh38
NC_000001.10:g.55509670G>T , CM000663.1:g.55509670G>T GRCh37
NC_000001.9:g.55282258G>T NCBI36
NG_009061.1:g.9451G>T , LRG_275:g.9451G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000673913.2:c.362G>T ENSP00000501161.2:p.Gly121Val
ENST00000710286.1:c.719G>T ENSP00000518176.1:p.Gly240Val
ENST00000673662.1:n.32G>T
ENST00000673726.1:c.362G>T ENSP00000501004.1:p.Gly121Val
ENST00000673903.1:c.-14G>T ENSP00000501257.1:n.-14G>T
ENST00000302118.5:c.362G>T MANE Select ENSP00000303208.5:p.Gly121Val
NM_174936.3:c.362G>T , LRG_275t1:c.362G>T NP_777596.2:p.Gly121Val
NR_110451.1:n.182+3594G>T
NM_174936.4:c.362G>T MANE Select NP_777596.2:p.Gly121Val
NR_110451.2:n.182+3594G>T