Canonical Allele Identifier: CA119624

Gene: PMP22

Linked Data

• ClinVar Variation Id: 8439
• ClinVar RCV Id: RCV000008954 ; RCV000594940 ; RCV001221866
• dbSNP Id: rs104894624
• MyVariant Identifiers: chr17:g.15134269C>A (hg19) ; chr17:g.15230952C>A (hg38)
• PubMed: PMID:9544841 ; PMID:23891399

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.15230952C>A , CM000679.2:g.15230952C>A	GRCh38
NC_000017.10:g.15134269C>A , CM000679.1:g.15134269C>A	GRCh37
NC_000017.9:g.15074994C>A	NCBI36
NG_007949.1:g.39376G>T , LRG_263:g.39376G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000312280.9:c.448G>T MANE Select	ENSP00000308937.3:p.Gly150Cys
ENST00000395936.7:c.*157G>T	ENSP00000379268.1:n.*157G>T
ENST00000395938.7:c.437G>T	ENSP00000379269.3:p.Arg146Leu
ENST00000494511.7:c.244G>T	ENSP00000462782.2:p.Gly82Cys
ENST00000580584.3:c.244G>T	ENSP00000464468.3:p.Gly82Cys
ENST00000612492.5:c.448G>T	ENSP00000484631.1:p.Gly150Cys
ENST00000643451.2:c.*303G>T	ENSP00000494628.1:n.*303G>T
ENST00000644020.1:c.*157G>T	ENSP00000496522.1:n.*157G>T
ENST00000646419.2:c.*157G>T	ENSP00000494871.1:n.*157G>T
ENST00000674651.1:c.448G>T	ENSP00000501727.1:p.Gly150Cys
ENST00000674673.1:c.448G>T	ENSP00000501804.1:p.Gly150Cys
ENST00000674707.1:c.244G>T	ENSP00000502250.1:p.Gly82Cys
ENST00000674868.1:c.448G>T	ENSP00000502835.1:p.Gly150Cys
ENST00000674871.1:n.464G>T
ENST00000674947.1:c.437G>T	ENSP00000501580.1:p.Arg146Leu
ENST00000675197.1:n.428G>T
ENST00000675350.1:c.448G>T	ENSP00000501557.1:p.Gly150Cys
ENST00000675551.1:c.*117G>T	ENSP00000501945.1:n.*117G>T
ENST00000675808.1:c.448G>T	ENSP00000502310.1:p.Gly150Cys
ENST00000675819.1:c.448G>T	ENSP00000502018.1:p.Gly150Cys
ENST00000675854.1:c.244G>T	ENSP00000502324.1:p.Gly82Cys
ENST00000675950.1:c.448G>T	ENSP00000501546.1:p.Gly150Cys
ENST00000676002.1:n.441G>T
ENST00000676161.1:c.307G>T	ENSP00000501766.1:p.Gly103Cys
ENST00000676221.1:c.448G>T	ENSP00000502601.1:p.Gly150Cys
ENST00000676329.1:c.550G>T	ENSP00000501698.1:p.Gly184Cys
ENST00000312280.7:c.448G>T	ENSP00000308937.3:p.Gly150Cys
ENST00000395936.5:c.*157G>T	ENSP00000379268.1:n.*157G>T
ENST00000395938.6:c.448G>T	ENSP00000379269.2:p.Gly150Cys
ENST00000494511.5:c.269G>T	ENSP00000462782.1:p.Arg90Leu
ENST00000612492.4:c.448G>T	ENSP00000484631.1:p.Gly150Cys
NM_000304.3:c.448G>T	NP_000295.1:p.Gly150Cys
NM_001281455.1:c.448G>T	NP_001268384.1:p.Gly150Cys
NM_001281456.1:c.448G>T	NP_001268385.1:p.Gly150Cys
NM_153321.2:c.448G>T	NP_696996.1:p.Gly150Cys
NM_153322.2:c.448G>T	NP_696997.1:p.Gly150Cys
NR_104017.1:n.574G>T
NR_104018.1:n.474G>T
NM_000304.4:c.448G>T MANE Select	NP_000295.1:p.Gly150Cys
NM_001281456.2:c.448G>T	NP_001268385.1:p.Gly150Cys
NM_153321.3:c.448G>T	NP_696996.1:p.Gly150Cys
NM_153322.3:c.448G>T	NP_696997.1:p.Gly150Cys
NR_104017.2:n.543G>T
NR_104018.2:n.443G>T
NM_001281455.2:c.448G>T	NP_001268384.1:p.Gly150Cys