Canonical Allele Identifier: CA2249498151
Gene: PMP22 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.15231004G= , CM000679.2:g.15231004G= GRCh38
NC_000017.10:g.15134321G= , CM000679.1:g.15134321G= GRCh37
NC_000017.9:g.15075046G= NCBI36
NG_007949.1:g.39324C= , LRG_263:g.39324C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000312280.9:c.396C= MANE Select ENSP00000308937.3:p.Tyr132=
ENST00000395936.7:c.*105C= ENSP00000379268.1:n.*105C=
ENST00000395938.7:c.385C= ENSP00000379269.3:p.Arg129=
ENST00000494511.7:c.192C= ENSP00000462782.2:p.Tyr64=
ENST00000580584.3:c.192C= ENSP00000464468.3:p.Tyr64=
ENST00000612492.5:c.396C= ENSP00000484631.1:p.Tyr132=
ENST00000643451.2:c.*251C= ENSP00000494628.1:n.*251C=
ENST00000644020.1:c.*105C= ENSP00000496522.1:n.*105C=
ENST00000646419.2:c.*105C= ENSP00000494871.1:n.*105C=
ENST00000674651.1:c.396C= ENSP00000501727.1:p.Tyr132=
ENST00000674673.1:c.396C= ENSP00000501804.1:p.Tyr132=
ENST00000674707.1:c.192C= ENSP00000502250.1:p.Tyr64=
ENST00000674868.1:c.396C= ENSP00000502835.1:p.Tyr132=
ENST00000674871.1:n.412C=
ENST00000674947.1:c.385C= ENSP00000501580.1:p.Arg129=
ENST00000675197.1:n.376C=
ENST00000675350.1:c.396C= ENSP00000501557.1:p.Tyr132=
ENST00000675551.1:c.*65C= ENSP00000501945.1:n.*65C=
ENST00000675808.1:c.396C= ENSP00000502310.1:p.Tyr132=
ENST00000675819.1:c.396C= ENSP00000502018.1:p.Tyr132=
ENST00000675854.1:c.192C= ENSP00000502324.1:p.Tyr64=
ENST00000675950.1:c.396C= ENSP00000501546.1:p.Tyr132=
ENST00000676002.1:n.389C=
ENST00000676161.1:c.255C= ENSP00000501766.1:p.Tyr85=
ENST00000676221.1:c.396C= ENSP00000502601.1:p.Tyr132=
ENST00000676329.1:c.498C= ENSP00000501698.1:p.Tyr166=
ENST00000312280.7:c.396C= ENSP00000308937.3:p.Tyr132=
ENST00000395936.5:c.*105C= ENSP00000379268.1:n.*105C=
ENST00000395938.6:c.396C= ENSP00000379269.2:p.Tyr132=
ENST00000494511.5:c.217C= ENSP00000462782.1:p.Arg73=
ENST00000612492.4:c.396C= ENSP00000484631.1:p.Tyr132=
NM_000304.3:c.396C= NP_000295.1:p.Tyr132=
NM_001281455.1:c.396C= NP_001268384.1:p.Tyr132=
NM_001281456.1:c.396C= NP_001268385.1:p.Tyr132=
NM_153321.2:c.396C= NP_696996.1:p.Tyr132=
NM_153322.2:c.396C= NP_696997.1:p.Tyr132=
NR_104017.1:n.522C=
NR_104018.1:n.422C=
NM_000304.4:c.396C= MANE Select NP_000295.1:p.Tyr132=
NM_001281456.2:c.396C= NP_001268385.1:p.Tyr132=
NM_153321.3:c.396C= NP_696996.1:p.Tyr132=
NM_153322.3:c.396C= NP_696997.1:p.Tyr132=
NR_104017.2:n.491C=
NR_104018.2:n.391C=
NM_001281455.2:c.396C= NP_001268384.1:p.Tyr132=