Canonical Allele Identifier: CA10649537

Gene: PMP22

Linked Data

• ClinVar Variation Id: 321865
• ClinVar RCV Id: RCV000311203 ; RCV000368316 ; RCV000789595
• dbSNP Id: rs560442424
• gnomAD v2: 17-15168577-G-C
• gnomAD v3: 17-15265260-G-C
• gnomAD v4: 17-15265260-G-C
• MyVariant Identifiers: chr17:g.15168577G>C (hg19) ; chr17:g.15265260G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.15265260G>C , CM000679.2:g.15265260G>C	GRCh38
NC_000017.10:g.15168577G>C , CM000679.1:g.15168577G>C	GRCh37
NC_000017.9:g.15109302G>C	NCBI36
NG_007949.1:g.5068C>G , LRG_263:g.5068C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000312280.9:c.-141C>G MANE Select	ENSP00000308937.3:n.-141C>G
ENST00000471150.3:n.49C>G
ENST00000494511.7:c.-133C>G	ENSP00000462782.2:n.-133C>G
ENST00000580584.3:c.-233C>G	ENSP00000464468.3:n.-233C>G
ENST00000646419.2:c.-141C>G	ENSP00000494871.1:n.-141C>G
ENST00000674868.1:c.-34-4499C>G	ENSP00000502835.1:n.-34-4499C>G
ENST00000675350.1:c.-34-4499C>G	ENSP00000501557.1:n.-34-4499C>G
ENST00000676221.1:c.-137C>G	ENSP00000502601.1:n.-137C>G
ENST00000312280.7:c.-141C>G	ENSP00000308937.3:n.-141C>G
ENST00000471150.2:n.49C>G
ENST00000494511.5:c.-108C>G	ENSP00000462782.1:n.-108C>G
ENST00000580584.1:c.-208C>G	ENSP00000464468.1:n.-208C>G
NM_000304.3:c.-141C>G	NP_000295.1:n.-141C>G
NM_001281456.1:c.-137C>G	NP_001268385.1:n.-137C>G
NR_104017.1:n.98C>G
NR_104018.1:n.98C>G
NM_001330143.1:c.-141C>G	NP_001317072.1:n.-141C>G
NM_000304.4:c.-141C>G MANE Select	NP_000295.1:n.-141C>G
NM_001281456.2:c.-137C>G	NP_001268385.1:n.-137C>G
NM_001330143.2:c.-141C>G	NP_001317072.1:n.-141C>G
NR_104017.2:n.67C>G
NR_104018.2:n.67C>G