Canonical Allele Identifier: CA398739650

Gene: PMP22

Linked Data

• ClinVar Variation Id: 637835
• ClinVar RCV Id: RCV000790165 ; RCV001873226 ; RCV003325975
• dbSNP Id: rs1597597627
• MyVariant Identifiers: chr17:g.15134325G>C (hg19) ; chr17:g.15231008G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.15231008G>C , CM000679.2:g.15231008G>C	GRCh38
NC_000017.10:g.15134325G>C , CM000679.1:g.15134325G>C	GRCh37
NC_000017.9:g.15075050G>C	NCBI36
NG_007949.1:g.39320C>G , LRG_263:g.39320C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000312280.9:c.392C>G MANE Select	ENSP00000308937.3:p.Ser131Cys
ENST00000395936.7:c.*101C>G	ENSP00000379268.1:n.*101C>G
ENST00000395938.7:c.381C>G	ENSP00000379269.3:p.Leu127=
ENST00000494511.7:c.188C>G	ENSP00000462782.2:p.Ser63Cys
ENST00000580584.3:c.188C>G	ENSP00000464468.3:p.Ser63Cys
ENST00000612492.5:c.392C>G	ENSP00000484631.1:p.Ser131Cys
ENST00000643451.2:c.*247C>G	ENSP00000494628.1:n.*247C>G
ENST00000644020.1:c.*101C>G	ENSP00000496522.1:n.*101C>G
ENST00000646419.2:c.*101C>G	ENSP00000494871.1:n.*101C>G
ENST00000674651.1:c.392C>G	ENSP00000501727.1:p.Ser131Cys
ENST00000674673.1:c.392C>G	ENSP00000501804.1:p.Ser131Cys
ENST00000674707.1:c.188C>G	ENSP00000502250.1:p.Ser63Cys
ENST00000674868.1:c.392C>G	ENSP00000502835.1:p.Ser131Cys
ENST00000674871.1:n.408C>G
ENST00000674947.1:c.381C>G	ENSP00000501580.1:p.Leu127=
ENST00000675197.1:n.372C>G
ENST00000675350.1:c.392C>G	ENSP00000501557.1:p.Ser131Cys
ENST00000675551.1:c.*61C>G	ENSP00000501945.1:n.*61C>G
ENST00000675808.1:c.392C>G	ENSP00000502310.1:p.Ser131Cys
ENST00000675819.1:c.392C>G	ENSP00000502018.1:p.Ser131Cys
ENST00000675854.1:c.188C>G	ENSP00000502324.1:p.Ser63Cys
ENST00000675950.1:c.392C>G	ENSP00000501546.1:p.Ser131Cys
ENST00000676002.1:n.385C>G
ENST00000676161.1:c.251C>G	ENSP00000501766.1:p.Ser84Cys
ENST00000676221.1:c.392C>G	ENSP00000502601.1:p.Ser131Cys
ENST00000676329.1:c.494C>G	ENSP00000501698.1:p.Ser165Cys
ENST00000312280.7:c.392C>G	ENSP00000308937.3:p.Ser131Cys
ENST00000395936.5:c.*101C>G	ENSP00000379268.1:n.*101C>G
ENST00000395938.6:c.392C>G	ENSP00000379269.2:p.Ser131Cys
ENST00000494511.5:c.213C>G	ENSP00000462782.1:p.Leu71=
ENST00000612492.4:c.392C>G	ENSP00000484631.1:p.Ser131Cys
NM_000304.3:c.392C>G	NP_000295.1:p.Ser131Cys
NM_001281455.1:c.392C>G	NP_001268384.1:p.Ser131Cys
NM_001281456.1:c.392C>G	NP_001268385.1:p.Ser131Cys
NM_153321.2:c.392C>G	NP_696996.1:p.Ser131Cys
NM_153322.2:c.392C>G	NP_696997.1:p.Ser131Cys
NR_104017.1:n.518C>G
NR_104018.1:n.418C>G
NM_000304.4:c.392C>G MANE Select	NP_000295.1:p.Ser131Cys
NM_001281456.2:c.392C>G	NP_001268385.1:p.Ser131Cys
NM_153321.3:c.392C>G	NP_696996.1:p.Ser131Cys
NM_153322.3:c.392C>G	NP_696997.1:p.Ser131Cys
NR_104017.2:n.487C>G
NR_104018.2:n.387C>G
NM_001281455.2:c.392C>G	NP_001268384.1:p.Ser131Cys