Canonical Allele Identifier: CA340482802
Gene: PCSK9 HGNC NCBI

Linked Data

gnomAD v4: 1-55039950-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.55039950A>T , CM000663.2:g.55039950A>T GRCh38
NC_000001.10:g.55505623A>T , CM000663.1:g.55505623A>T GRCh37
NC_000001.9:g.55278211A>T NCBI36
NG_009061.1:g.5404A>T , LRG_275:g.5404A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000673913.2:c.113A>T ENSP00000501161.2:p.Tyr38Phe
ENST00000710286.1:c.470A>T ENSP00000518176.1:p.Tyr157Phe
ENST00000673726.1:c.113A>T ENSP00000501004.1:p.Tyr38Phe
ENST00000302118.5:c.113A>T MANE Select ENSP00000303208.5:p.Tyr38Phe
NM_174936.3:c.113A>T , LRG_275t1:c.113A>T NP_777596.2:p.Tyr38Phe
NM_174936.4:c.113A>T MANE Select NP_777596.2:p.Tyr38Phe