Canonical Allele Identifier: CA279101

Gene: PMP22

Linked Data

• ClinVar Variation Id: 217237
• ClinVar RCV Id: RCV000627222 ; RCV001173911 ; RCV001388272
• dbSNP Id: rs863225028
• MyVariant Identifiers: chr17:g.15134390G>T (hg19) ; chr17:g.15231073G>T (hg38)
• PubMed: PMID:15099590 ; PMID:22131320

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.15231073G>T , CM000679.2:g.15231073G>T	GRCh38
NC_000017.10:g.15134390G>T , CM000679.1:g.15134390G>T	GRCh37
NC_000017.9:g.15075115G>T	NCBI36
NG_007949.1:g.39255C>A , LRG_263:g.39255C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000312280.9:c.327C>A MANE Select	ENSP00000308937.3:p.Cys109Ter
ENST00000395936.7:c.*36C>A	ENSP00000379268.1:n.*36C>A
ENST00000395938.7:c.316C>A	ENSP00000379269.3:p.Arg106Ser
ENST00000494511.7:c.123C>A	ENSP00000462782.2:p.Cys41Ter
ENST00000580584.3:c.123C>A	ENSP00000464468.3:p.Cys41Ter
ENST00000612492.5:c.327C>A	ENSP00000484631.1:p.Cys109Ter
ENST00000643451.2:c.*182C>A	ENSP00000494628.1:n.*182C>A
ENST00000644020.1:c.*36C>A	ENSP00000496522.1:n.*36C>A
ENST00000646419.2:c.*36C>A	ENSP00000494871.1:n.*36C>A
ENST00000674651.1:c.327C>A	ENSP00000501727.1:p.Cys109Ter
ENST00000674673.1:c.327C>A	ENSP00000501804.1:p.Cys109Ter
ENST00000674707.1:c.123C>A	ENSP00000502250.1:p.Cys41Ter
ENST00000674868.1:c.327C>A	ENSP00000502835.1:p.Cys109Ter
ENST00000674871.1:n.343C>A
ENST00000674947.1:c.316C>A	ENSP00000501580.1:p.Arg106Ser
ENST00000675197.1:n.307C>A
ENST00000675350.1:c.327C>A	ENSP00000501557.1:p.Cys109Ter
ENST00000675551.1:c.494C>A	ENSP00000501945.1:p.Ala165Glu
ENST00000675808.1:c.327C>A	ENSP00000502310.1:p.Cys109Ter
ENST00000675819.1:c.327C>A	ENSP00000502018.1:p.Cys109Ter
ENST00000675854.1:c.123C>A	ENSP00000502324.1:p.Cys41Ter
ENST00000675950.1:c.327C>A	ENSP00000501546.1:p.Cys109Ter
ENST00000676002.1:n.320C>A
ENST00000676161.1:c.186C>A	ENSP00000501766.1:p.Cys62Ter
ENST00000676221.1:c.327C>A	ENSP00000502601.1:p.Cys109Ter
ENST00000676329.1:c.429C>A	ENSP00000501698.1:p.Cys143Ter
ENST00000312280.7:c.327C>A	ENSP00000308937.3:p.Cys109Ter
ENST00000395936.5:c.*36C>A	ENSP00000379268.1:n.*36C>A
ENST00000395938.6:c.327C>A	ENSP00000379269.2:p.Cys109Ter
ENST00000494511.5:c.148C>A	ENSP00000462782.1:p.Arg50Ser
ENST00000580584.1:c.148C>A	ENSP00000464468.1:p.Arg50Ser
ENST00000612492.4:c.327C>A	ENSP00000484631.1:p.Cys109Ter
NM_000304.3:c.327C>A	NP_000295.1:p.Cys109Ter
NM_001281455.1:c.327C>A	NP_001268384.1:p.Cys109Ter
NM_001281456.1:c.327C>A	NP_001268385.1:p.Cys109Ter
NM_153321.2:c.327C>A	NP_696996.1:p.Cys109Ter
NM_153322.2:c.327C>A	NP_696997.1:p.Cys109Ter
NR_104017.1:n.453C>A
NR_104018.1:n.353C>A
NM_000304.4:c.327C>A MANE Select	NP_000295.1:p.Cys109Ter
NM_001281456.2:c.327C>A	NP_001268385.1:p.Cys109Ter
NM_153321.3:c.327C>A	NP_696996.1:p.Cys109Ter
NM_153322.3:c.327C>A	NP_696997.1:p.Cys109Ter
NR_104017.2:n.422C>A
NR_104018.2:n.322C>A
NM_001281455.2:c.327C>A	NP_001268384.1:p.Cys109Ter