Canonical Allele Identifier: CA398739522

Gene: PMP22

Linked Data

• ClinVar Variation Id: 637381
• ClinVar RCV Id: RCV000789523
• dbSNP Id: rs1597597445
• MyVariant Identifiers: chr17:g.15134277A>C (hg19) ; chr17:g.15230960A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.15230960A>C , CM000679.2:g.15230960A>C	GRCh38
NC_000017.10:g.15134277A>C , CM000679.1:g.15134277A>C	GRCh37
NC_000017.9:g.15075002A>C	NCBI36
NG_007949.1:g.39368T>G , LRG_263:g.39368T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000312280.9:c.440T>G MANE Select	ENSP00000308937.3:p.Leu147Arg
ENST00000395936.7:c.*149T>G	ENSP00000379268.1:n.*149T>G
ENST00000395938.7:c.429T>G	ENSP00000379269.3:p.Pro143=
ENST00000494511.7:c.236T>G	ENSP00000462782.2:p.Leu79Arg
ENST00000580584.3:c.236T>G	ENSP00000464468.3:p.Leu79Arg
ENST00000612492.5:c.440T>G	ENSP00000484631.1:p.Leu147Arg
ENST00000643451.2:c.*295T>G	ENSP00000494628.1:n.*295T>G
ENST00000644020.1:c.*149T>G	ENSP00000496522.1:n.*149T>G
ENST00000646419.2:c.*149T>G	ENSP00000494871.1:n.*149T>G
ENST00000674651.1:c.440T>G	ENSP00000501727.1:p.Leu147Arg
ENST00000674673.1:c.440T>G	ENSP00000501804.1:p.Leu147Arg
ENST00000674707.1:c.236T>G	ENSP00000502250.1:p.Leu79Arg
ENST00000674868.1:c.440T>G	ENSP00000502835.1:p.Leu147Arg
ENST00000674871.1:n.456T>G
ENST00000674947.1:c.429T>G	ENSP00000501580.1:p.Pro143=
ENST00000675197.1:n.420T>G
ENST00000675350.1:c.440T>G	ENSP00000501557.1:p.Leu147Arg
ENST00000675551.1:c.*109T>G	ENSP00000501945.1:n.*109T>G
ENST00000675808.1:c.440T>G	ENSP00000502310.1:p.Leu147Arg
ENST00000675819.1:c.440T>G	ENSP00000502018.1:p.Leu147Arg
ENST00000675854.1:c.236T>G	ENSP00000502324.1:p.Leu79Arg
ENST00000675950.1:c.440T>G	ENSP00000501546.1:p.Leu147Arg
ENST00000676002.1:n.433T>G
ENST00000676161.1:c.299T>G	ENSP00000501766.1:p.Leu100Arg
ENST00000676221.1:c.440T>G	ENSP00000502601.1:p.Leu147Arg
ENST00000676329.1:c.542T>G	ENSP00000501698.1:p.Leu181Arg
ENST00000312280.7:c.440T>G	ENSP00000308937.3:p.Leu147Arg
ENST00000395936.5:c.*149T>G	ENSP00000379268.1:n.*149T>G
ENST00000395938.6:c.440T>G	ENSP00000379269.2:p.Leu147Arg
ENST00000494511.5:c.261T>G	ENSP00000462782.1:p.Pro87=
ENST00000612492.4:c.440T>G	ENSP00000484631.1:p.Leu147Arg
NM_000304.3:c.440T>G	NP_000295.1:p.Leu147Arg
NM_001281455.1:c.440T>G	NP_001268384.1:p.Leu147Arg
NM_001281456.1:c.440T>G	NP_001268385.1:p.Leu147Arg
NM_153321.2:c.440T>G	NP_696996.1:p.Leu147Arg
NM_153322.2:c.440T>G	NP_696997.1:p.Leu147Arg
NR_104017.1:n.566T>G
NR_104018.1:n.466T>G
NM_000304.4:c.440T>G MANE Select	NP_000295.1:p.Leu147Arg
NM_001281456.2:c.440T>G	NP_001268385.1:p.Leu147Arg
NM_153321.3:c.440T>G	NP_696996.1:p.Leu147Arg
NM_153322.3:c.440T>G	NP_696997.1:p.Leu147Arg
NR_104017.2:n.535T>G
NR_104018.2:n.435T>G
NM_001281455.2:c.440T>G	NP_001268384.1:p.Leu147Arg