Canonical Allele Identifier: CA340480903
Gene: PCSK9 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.55063553A>T , CM000663.2:g.55063553A>T GRCh38
NC_000001.10:g.55529226A>T , CM000663.1:g.55529226A>T GRCh37
NC_000001.9:g.55301814A>T NCBI36
NG_009061.1:g.29007A>T , LRG_275:g.29007A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000673913.2:c.*388A>T ENSP00000501161.2:n.*388A>T
ENST00000710286.1:c.2405A>T ENSP00000518176.1:p.His802Leu
ENST00000673903.1:c.1673A>T ENSP00000501257.1:p.His558Leu
ENST00000302118.5:c.2048A>T MANE Select ENSP00000303208.5:p.His683Leu
ENST00000490692.1:n.2594A>T
NM_174936.3:c.2048A>T , LRG_275t1:c.2048A>T NP_777596.2:p.His683Leu
NR_110451.1:n.1655A>T
XM_011541193.1:c.1169A>T XP_011539495.1:p.His390Leu
NM_174936.4:c.2048A>T MANE Select NP_777596.2:p.His683Leu
NR_110451.2:n.1655A>T