Canonical Allele Identifier: CA2249498323

Gene: PMP22

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.15231062G= , CM000679.2:g.15231062G=	GRCh38
NC_000017.10:g.15134379G= , CM000679.1:g.15134379G=	GRCh37
NC_000017.9:g.15075104G=	NCBI36
NG_007949.1:g.39266C= , LRG_263:g.39266C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000312280.9:c.338C= MANE Select	ENSP00000308937.3:p.Ala113=
ENST00000395936.7:c.*47C=	ENSP00000379268.1:n.*47C=
ENST00000395938.7:c.327C=	ENSP00000379269.3:p.Cys109=
ENST00000494511.7:c.134C=	ENSP00000462782.2:p.Ala45=
ENST00000580584.3:c.134C=	ENSP00000464468.3:p.Ala45=
ENST00000612492.5:c.338C=	ENSP00000484631.1:p.Ala113=
ENST00000643451.2:c.*193C=	ENSP00000494628.1:n.*193C=
ENST00000644020.1:c.*47C=	ENSP00000496522.1:n.*47C=
ENST00000646419.2:c.*47C=	ENSP00000494871.1:n.*47C=
ENST00000674651.1:c.338C=	ENSP00000501727.1:p.Ala113=
ENST00000674673.1:c.338C=	ENSP00000501804.1:p.Ala113=
ENST00000674707.1:c.134C=	ENSP00000502250.1:p.Ala45=
ENST00000674868.1:c.338C=	ENSP00000502835.1:p.Ala113=
ENST00000674871.1:n.354C=
ENST00000674947.1:c.327C=	ENSP00000501580.1:p.Cys109=
ENST00000675197.1:n.318C=
ENST00000675350.1:c.338C=	ENSP00000501557.1:p.Ala113=
ENST00000675551.1:c.*7C=	ENSP00000501945.1:n.*7C=
ENST00000675808.1:c.338C=	ENSP00000502310.1:p.Ala113=
ENST00000675819.1:c.338C=	ENSP00000502018.1:p.Ala113=
ENST00000675854.1:c.134C=	ENSP00000502324.1:p.Ala45=
ENST00000675950.1:c.338C=	ENSP00000501546.1:p.Ala113=
ENST00000676002.1:n.331C=
ENST00000676161.1:c.197C=	ENSP00000501766.1:p.Ala66=
ENST00000676221.1:c.338C=	ENSP00000502601.1:p.Ala113=
ENST00000676329.1:c.440C=	ENSP00000501698.1:p.Ala147=
ENST00000312280.7:c.338C=	ENSP00000308937.3:p.Ala113=
ENST00000395936.5:c.*47C=	ENSP00000379268.1:n.*47C=
ENST00000395938.6:c.338C=	ENSP00000379269.2:p.Ala113=
ENST00000494511.5:c.159C=	ENSP00000462782.1:p.Cys53=
ENST00000612492.4:c.338C=	ENSP00000484631.1:p.Ala113=
NM_000304.3:c.338C=	NP_000295.1:p.Ala113=
NM_001281455.1:c.338C=	NP_001268384.1:p.Ala113=
NM_001281456.1:c.338C=	NP_001268385.1:p.Ala113=
NM_153321.2:c.338C=	NP_696996.1:p.Ala113=
NM_153322.2:c.338C=	NP_696997.1:p.Ala113=
NR_104017.1:n.464C=
NR_104018.1:n.364C=
NM_000304.4:c.338C= MANE Select	NP_000295.1:p.Ala113=
NM_001281456.2:c.338C=	NP_001268385.1:p.Ala113=
NM_153321.3:c.338C=	NP_696996.1:p.Ala113=
NM_153322.3:c.338C=	NP_696997.1:p.Ala113=
NR_104017.2:n.433C=
NR_104018.2:n.333C=
NM_001281455.2:c.338C=	NP_001268384.1:p.Ala113=