Canonical Allele Identifier: CA981756787

Gene: PMP22

Linked Data

• dbSNP Id: rs1906246799
• gnomAD v3: 17-15230867-C-T
• gnomAD v4: 17-15230867-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.15230867C>T , CM000679.2:g.15230867C>T	GRCh38
NC_000017.10:g.15134184C>T , CM000679.1:g.15134184C>T	GRCh37
NC_000017.9:g.15074909C>T	NCBI36
NG_007949.1:g.39461G>A , LRG_263:g.39461G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000312280.9:c.*50G>A MANE Select	ENSP00000308937.3:n.*50G>A
ENST00000395936.7:c.*242G>A	ENSP00000379268.1:n.*242G>A
ENST00000395938.7:c.522G>A	ENSP00000379269.3:p.Arg174=
ENST00000494511.7:c.*50G>A	ENSP00000462782.2:n.*50G>A
ENST00000580584.3:c.*50G>A	ENSP00000464468.3:n.*50G>A
ENST00000612492.5:c.*50G>A	ENSP00000484631.1:n.*50G>A
ENST00000643451.2:c.*388G>A	ENSP00000494628.1:n.*388G>A
ENST00000644020.1:c.*242G>A	ENSP00000496522.1:n.*242G>A
ENST00000646419.2:c.*242G>A	ENSP00000494871.1:n.*242G>A
ENST00000674651.1:c.*50G>A	ENSP00000501727.1:n.*50G>A
ENST00000674673.1:c.*50G>A	ENSP00000501804.1:n.*50G>A
ENST00000674707.1:c.*50G>A	ENSP00000502250.1:n.*50G>A
ENST00000674868.1:c.*50G>A	ENSP00000502835.1:n.*50G>A
ENST00000674871.1:n.549G>A
ENST00000674947.1:c.522G>A	ENSP00000501580.1:p.Arg174=
ENST00000675197.1:n.513G>A
ENST00000675350.1:c.*50G>A	ENSP00000501557.1:n.*50G>A
ENST00000675551.1:c.*202G>A	ENSP00000501945.1:n.*202G>A
ENST00000675808.1:c.*50G>A	ENSP00000502310.1:n.*50G>A
ENST00000675819.1:c.*50G>A	ENSP00000502018.1:n.*50G>A
ENST00000675854.1:c.*50G>A	ENSP00000502324.1:n.*50G>A
ENST00000675950.1:c.*50G>A	ENSP00000501546.1:n.*50G>A
ENST00000676002.1:n.526G>A
ENST00000676161.1:c.*50G>A	ENSP00000501766.1:n.*50G>A
ENST00000676221.1:c.*50G>A	ENSP00000502601.1:n.*50G>A
ENST00000676329.1:c.*50G>A	ENSP00000501698.1:n.*50G>A
ENST00000312280.7:c.*50G>A	ENSP00000308937.3:n.*50G>A
ENST00000395936.5:c.*242G>A	ENSP00000379268.1:n.*242G>A
ENST00000395938.6:c.*50G>A	ENSP00000379269.2:n.*50G>A
ENST00000494511.5:c.354G>A	ENSP00000462782.1:p.Arg118=
ENST00000612492.4:c.*50G>A	ENSP00000484631.1:n.*50G>A
NM_000304.3:c.*50G>A	NP_000295.1:n.*50G>A
NM_001281455.1:c.*50G>A	NP_001268384.1:n.*50G>A
NM_001281456.1:c.*50G>A	NP_001268385.1:n.*50G>A
NM_153321.2:c.*50G>A	NP_696996.1:n.*50G>A
NM_153322.2:c.*50G>A	NP_696997.1:n.*50G>A
NR_104017.1:n.659G>A
NR_104018.1:n.559G>A
NM_000304.4:c.*50G>A MANE Select	NP_000295.1:n.*50G>A
NM_001281456.2:c.*50G>A	NP_001268385.1:n.*50G>A
NM_153321.3:c.*50G>A	NP_696996.1:n.*50G>A
NM_153322.3:c.*50G>A	NP_696997.1:n.*50G>A
NR_104017.2:n.628G>A
NR_104018.2:n.528G>A
NM_001281455.2:c.*50G>A	NP_001268384.1:n.*50G>A