Canonical Allele Identifier: CA119622

Gene: PMP22

Linked Data

• ClinVar Variation Id: 8434
• ClinVar RCV Id: RCV000008949 ; RCV000168060 ; RCV000622783 ; RCV000790177 ; RCV001195890
• dbSNP Id: rs104894622
• gnomAD v4: 17-15260692-G-T
• MyVariant Identifiers: chr17:g.15164009G>T (hg19) ; chr17:g.15260692G>T (hg38)
• PubMed: PMID:1523566 ; PMID:3467805 ; PMID:7728152 ; PMID:8275092 ; PMID:9004143 ; PMID:9543325 ; PMID:10211478 ; PMID:10369870 ; PMID:11523566 ; PMID:11835375 ; PMID:12439896 ; PMID:18592125 ; PMID:18698610 ; PMID:21840889 ; PMID:23224996 ; PMID:23781966 ; PMID:24534835 ; PMID:24646194 ; PMID:24668782 ; PMID:24726093 ; PMID:26076881

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
ENST00000312280.9:c.36C>A MANE Select	ENSP00000308937.3:p.His12Gln
ENST00000395936.7:c.36C>A	ENSP00000379268.1:p.His12Gln
ENST00000395938.7:c.36C>A	ENSP00000379269.3:p.His12Gln
ENST00000426385.4:c.36C>A	ENSP00000409824.3:p.His12Gln
ENST00000471150.3:n.225C>A
ENST00000494511.7:c.-27+4462C>A	ENSP00000462782.2:n.-27+4462C>A
ENST00000580584.3:c.-126-1499C>A	ENSP00000464468.3:n.-126-1499C>A
ENST00000612492.5:c.36C>A	ENSP00000484631.1:p.His12Gln
ENST00000643451.2:c.36C>A	ENSP00000494628.1:p.His12Gln
ENST00000644020.1:c.36C>A	ENSP00000496522.1:p.His12Gln
ENST00000646419.2:c.36C>A	ENSP00000494871.1:p.His12Gln
ENST00000674651.1:c.36C>A	ENSP00000501727.1:p.His12Gln
ENST00000674673.1:c.36C>A	ENSP00000501804.1:p.His12Gln
ENST00000674707.1:c.-27+1737C>A	ENSP00000502250.1:n.-27+1737C>A
ENST00000674868.1:c.36C>A	ENSP00000502835.1:p.His12Gln
ENST00000674947.1:c.36C>A	ENSP00000501580.1:p.His12Gln
ENST00000675350.1:c.36C>A	ENSP00000501557.1:p.His12Gln
ENST00000675551.1:c.36C>A	ENSP00000501945.1:p.His12Gln
ENST00000675808.1:c.36C>A	ENSP00000502310.1:p.His12Gln
ENST00000675819.1:c.36C>A	ENSP00000502018.1:p.His12Gln
ENST00000675854.1:c.-126-1499C>A	ENSP00000502324.1:n.-126-1499C>A
ENST00000675950.1:c.36C>A	ENSP00000501546.1:p.His12Gln
ENST00000676161.1:c.36C>A	ENSP00000501766.1:p.His12Gln
ENST00000676221.1:c.36C>A	ENSP00000502601.1:p.His12Gln
ENST00000676329.1:c.36C>A	ENSP00000501698.1:p.His12Gln
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
ENST00000471150.2:n.225C>A
ENST00000494511.5:c.-2+4462C>A	ENSP00000462782.1:n.-2+4462C>A
ENST00000580497.1:n.77C>A
ENST00000580584.1:c.-101-1499C>A	ENSP00000464468.1:n.-101-1499C>A
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
NR_104017.1:n.205-1499C>A
NR_104018.1:n.204+4462C>A
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
NR_104017.2:n.174-1499C>A
NR_104018.2:n.173+4462C>A
NM_001281455.2:c.36C>A	NP_001268384.1:p.His12Gln