Canonical Allele Identifier: CA288864492
Gene: PMP22 HGNC NCBI

Linked Data

ClinVar Variation Id: 2045631
ClinVar RCV Id: RCV002908780
dbSNP Id: rs576618192

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.15231030A>G , CM000679.2:g.15231030A>G GRCh38
NC_000017.10:g.15134347A>G , CM000679.1:g.15134347A>G GRCh37
NC_000017.9:g.15075072A>G NCBI36
NG_007949.1:g.39298T>C , LRG_263:g.39298T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000312280.9:c.370T>C MANE Select ENSP00000308937.3:p.Trp124Arg
ENST00000395936.7:c.*79T>C ENSP00000379268.1:n.*79T>C
ENST00000395938.7:c.359T>C ENSP00000379269.3:p.Val120Ala
ENST00000494511.7:c.166T>C ENSP00000462782.2:p.Trp56Arg
ENST00000580584.3:c.166T>C ENSP00000464468.3:p.Trp56Arg
ENST00000612492.5:c.370T>C ENSP00000484631.1:p.Trp124Arg
ENST00000643451.2:c.*225T>C ENSP00000494628.1:n.*225T>C
ENST00000644020.1:c.*79T>C ENSP00000496522.1:n.*79T>C
ENST00000646419.2:c.*79T>C ENSP00000494871.1:n.*79T>C
ENST00000674651.1:c.370T>C ENSP00000501727.1:p.Trp124Arg
ENST00000674673.1:c.370T>C ENSP00000501804.1:p.Trp124Arg
ENST00000674707.1:c.166T>C ENSP00000502250.1:p.Trp56Arg
ENST00000674868.1:c.370T>C ENSP00000502835.1:p.Trp124Arg
ENST00000674871.1:n.386T>C
ENST00000674947.1:c.359T>C ENSP00000501580.1:p.Val120Ala
ENST00000675197.1:n.350T>C
ENST00000675350.1:c.370T>C ENSP00000501557.1:p.Trp124Arg
ENST00000675551.1:c.*39T>C ENSP00000501945.1:n.*39T>C
ENST00000675808.1:c.370T>C ENSP00000502310.1:p.Trp124Arg
ENST00000675819.1:c.370T>C ENSP00000502018.1:p.Trp124Arg
ENST00000675854.1:c.166T>C ENSP00000502324.1:p.Trp56Arg
ENST00000675950.1:c.370T>C ENSP00000501546.1:p.Trp124Arg
ENST00000676002.1:n.363T>C
ENST00000676161.1:c.229T>C ENSP00000501766.1:p.Trp77Arg
ENST00000676221.1:c.370T>C ENSP00000502601.1:p.Trp124Arg
ENST00000676329.1:c.472T>C ENSP00000501698.1:p.Trp158Arg
ENST00000312280.7:c.370T>C ENSP00000308937.3:p.Trp124Arg
ENST00000395936.5:c.*79T>C ENSP00000379268.1:n.*79T>C
ENST00000395938.6:c.370T>C ENSP00000379269.2:p.Trp124Arg
ENST00000494511.5:c.191T>C ENSP00000462782.1:p.Val64Ala
ENST00000612492.4:c.370T>C ENSP00000484631.1:p.Trp124Arg
NM_000304.3:c.370T>C NP_000295.1:p.Trp124Arg
NM_001281455.1:c.370T>C NP_001268384.1:p.Trp124Arg
NM_001281456.1:c.370T>C NP_001268385.1:p.Trp124Arg
NM_153321.2:c.370T>C NP_696996.1:p.Trp124Arg
NM_153322.2:c.370T>C NP_696997.1:p.Trp124Arg
NR_104017.1:n.496T>C
NR_104018.1:n.396T>C
NM_000304.4:c.370T>C MANE Select NP_000295.1:p.Trp124Arg
NM_001281456.2:c.370T>C NP_001268385.1:p.Trp124Arg
NM_153321.3:c.370T>C NP_696996.1:p.Trp124Arg
NM_153322.3:c.370T>C NP_696997.1:p.Trp124Arg
NR_104017.2:n.465T>C
NR_104018.2:n.365T>C
NM_001281455.2:c.370T>C NP_001268384.1:p.Trp124Arg