Canonical Allele Identifier: CA398739604
Gene: PMP22 HGNC NCBI

Linked Data

dbSNP Id: rs1416596864

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.15230990A>T , CM000679.2:g.15230990A>T GRCh38
NC_000017.10:g.15134307A>T , CM000679.1:g.15134307A>T GRCh37
NC_000017.9:g.15075032A>T NCBI36
NG_007949.1:g.39338T>A , LRG_263:g.39338T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000312280.9:c.410T>A MANE Select ENSP00000308937.3:p.Ile137Asn
ENST00000395936.7:c.*119T>A ENSP00000379268.1:n.*119T>A
ENST00000395938.7:c.399T>A ENSP00000379269.3:p.His133Gln
ENST00000494511.7:c.206T>A ENSP00000462782.2:p.Ile69Asn
ENST00000580584.3:c.206T>A ENSP00000464468.3:p.Ile69Asn
ENST00000612492.5:c.410T>A ENSP00000484631.1:p.Ile137Asn
ENST00000643451.2:c.*265T>A ENSP00000494628.1:n.*265T>A
ENST00000644020.1:c.*119T>A ENSP00000496522.1:n.*119T>A
ENST00000646419.2:c.*119T>A ENSP00000494871.1:n.*119T>A
ENST00000674651.1:c.410T>A ENSP00000501727.1:p.Ile137Asn
ENST00000674673.1:c.410T>A ENSP00000501804.1:p.Ile137Asn
ENST00000674707.1:c.206T>A ENSP00000502250.1:p.Ile69Asn
ENST00000674868.1:c.410T>A ENSP00000502835.1:p.Ile137Asn
ENST00000674871.1:n.426T>A
ENST00000674947.1:c.399T>A ENSP00000501580.1:p.His133Gln
ENST00000675197.1:n.390T>A
ENST00000675350.1:c.410T>A ENSP00000501557.1:p.Ile137Asn
ENST00000675551.1:c.*79T>A ENSP00000501945.1:n.*79T>A
ENST00000675808.1:c.410T>A ENSP00000502310.1:p.Ile137Asn
ENST00000675819.1:c.410T>A ENSP00000502018.1:p.Ile137Asn
ENST00000675854.1:c.206T>A ENSP00000502324.1:p.Ile69Asn
ENST00000675950.1:c.410T>A ENSP00000501546.1:p.Ile137Asn
ENST00000676002.1:n.403T>A
ENST00000676161.1:c.269T>A ENSP00000501766.1:p.Ile90Asn
ENST00000676221.1:c.410T>A ENSP00000502601.1:p.Ile137Asn
ENST00000676329.1:c.512T>A ENSP00000501698.1:p.Ile171Asn
ENST00000312280.7:c.410T>A ENSP00000308937.3:p.Ile137Asn
ENST00000395936.5:c.*119T>A ENSP00000379268.1:n.*119T>A
ENST00000395938.6:c.410T>A ENSP00000379269.2:p.Ile137Asn
ENST00000494511.5:c.231T>A ENSP00000462782.1:p.His77Gln
ENST00000612492.4:c.410T>A ENSP00000484631.1:p.Ile137Asn
NM_000304.3:c.410T>A NP_000295.1:p.Ile137Asn
NM_001281455.1:c.410T>A NP_001268384.1:p.Ile137Asn
NM_001281456.1:c.410T>A NP_001268385.1:p.Ile137Asn
NM_153321.2:c.410T>A NP_696996.1:p.Ile137Asn
NM_153322.2:c.410T>A NP_696997.1:p.Ile137Asn
NR_104017.1:n.536T>A
NR_104018.1:n.436T>A
NM_000304.4:c.410T>A MANE Select NP_000295.1:p.Ile137Asn
NM_001281456.2:c.410T>A NP_001268385.1:p.Ile137Asn
NM_153321.3:c.410T>A NP_696996.1:p.Ile137Asn
NM_153322.3:c.410T>A NP_696997.1:p.Ile137Asn
NR_104017.2:n.505T>A
NR_104018.2:n.405T>A
NM_001281455.2:c.410T>A NP_001268384.1:p.Ile137Asn