Canonical Allele Identifier: CA034785
Gene: PCSK9 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.55039940G>T
GRCh37 chr1:g.55505613G>T
Revel Score:
ENST00000302118 (MANE Select) 0.320
ENST00000452118 0.320
gnomAD v2:
1:55505613 G / T
gnomAD v3:
1:55039940 G / T
gnomAD v4:
chr1-55039940-G-T
Joint Max Group AF 0.00000388 (SAS)
Exomes Max Group AF 0.00000411 (SAS)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.55039940G>T , CM000663.2:g.55039940G>T GRCh38
NC_000001.10:g.55505613G>T , CM000663.1:g.55505613G>T GRCh37
NC_000001.9:g.55278201G>T NCBI36
NG_009061.1:g.5394G>T , LRG_275:g.5394G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000673913.2:c.103G>T ENSP00000501161.2:p.Asp35Tyr
ENST00000710286.1:c.460G>T ENSP00000518176.1:p.Asp154Tyr
ENST00000673726.1:c.103G>T ENSP00000501004.1:p.Asp35Tyr
ENST00000302118.5:c.103G>T MANE Select ENSP00000303208.5:p.Asp35Tyr
NM_174936.3:c.103G>T , LRG_275t1:c.103G>T NP_777596.2:p.Asp35Tyr
NM_174936.4:c.103G>T MANE Select NP_777596.2:p.Asp35Tyr
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