Canonical Allele Identifier: CA119622
Gene: PMP22 HGNC NCBI

Linked Data

ClinVar Variation Id: 8434
dbSNP Id: rs104894622

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.15260692G>T , CM000679.2:g.15260692G>T GRCh38
NC_000017.10:g.15164009G>T , CM000679.1:g.15164009G>T GRCh37
NC_000017.9:g.15104734G>T NCBI36
NG_007949.1:g.9636C>A , LRG_263:g.9636C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000312280.7:c.36C>A ENSP00000308937.3:p.His12Gln
ENST00000395936.5:c.36C>A ENSP00000379268.1:p.His12Gln
ENST00000395938.6:c.36C>A ENSP00000379269.2:p.His12Gln
ENST00000426385.3:c.36C>A ENSP00000409824.3:p.His12Gln
ENST00000494511.5:c.-2+4462C>A ENSP00000462782.1:p.=
ENST00000580584.1:c.-101-1499C>A ENSP00000464468.1:p.=
ENST00000612492.4:c.36C>A ENSP00000484631.1:p.His12Gln
NM_000304.3:c.36C>A NP_000295.1:p.His12Gln
NM_001281455.1:c.36C>A NP_001268384.1:p.His12Gln
NM_001281456.1:c.36C>A NP_001268385.1:p.His12Gln
NM_153321.2:c.36C>A NP_696996.1:p.His12Gln
NM_153322.2:c.36C>A NP_696997.1:p.His12Gln
XM_011523943.1:c.36C>A XP_011522245.1:p.His12Gln
NM_001330143.1:c.36C>A NP_001317072.1:p.His12Gln
XM_024450806.1:c.36C>A XP_024306574.1:p.His12Gln
NM_000304.4:c.36C>A MANE Select NP_000295.1:p.His12Gln
NM_001281456.2:c.36C>A NP_001268385.1:p.His12Gln
NM_001330143.2:c.36C>A NP_001317072.1:p.His12Gln
NM_153321.3:c.36C>A NP_696996.1:p.His12Gln
NM_153322.3:c.36C>A NP_696997.1:p.His12Gln
NM_001281455.2:c.36C>A NP_001268384.1:p.His12Gln