Canonical Allele Identifier: CA398739762

Gene: PMP22

Linked Data

• ClinVar Variation Id: 846662
• ClinVar RCV Id: RCV001050022
• dbSNP Id: rs1906290133
• MyVariant Identifiers: chr17:g.15134366G>T (hg19) ; chr17:g.15231049G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.15231049G>T , CM000679.2:g.15231049G>T	GRCh38
NC_000017.10:g.15134366G>T , CM000679.1:g.15134366G>T	GRCh37
NC_000017.9:g.15075091G>T	NCBI36
NG_007949.1:g.39279C>A , LRG_263:g.39279C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000312280.9:c.351C>A MANE Select	ENSP00000308937.3:p.Tyr117Ter
ENST00000395936.7:c.*60C>A	ENSP00000379268.1:n.*60C>A
ENST00000395938.7:c.340C>A	ENSP00000379269.3:p.His114Asn
ENST00000494511.7:c.147C>A	ENSP00000462782.2:p.Tyr49Ter
ENST00000580584.3:c.147C>A	ENSP00000464468.3:p.Tyr49Ter
ENST00000612492.5:c.351C>A	ENSP00000484631.1:p.Tyr117Ter
ENST00000643451.2:c.*206C>A	ENSP00000494628.1:n.*206C>A
ENST00000644020.1:c.*60C>A	ENSP00000496522.1:n.*60C>A
ENST00000646419.2:c.*60C>A	ENSP00000494871.1:n.*60C>A
ENST00000674651.1:c.351C>A	ENSP00000501727.1:p.Tyr117Ter
ENST00000674673.1:c.351C>A	ENSP00000501804.1:p.Tyr117Ter
ENST00000674707.1:c.147C>A	ENSP00000502250.1:p.Tyr49Ter
ENST00000674868.1:c.351C>A	ENSP00000502835.1:p.Tyr117Ter
ENST00000674871.1:n.367C>A
ENST00000674947.1:c.340C>A	ENSP00000501580.1:p.His114Asn
ENST00000675197.1:n.331C>A
ENST00000675350.1:c.351C>A	ENSP00000501557.1:p.Tyr117Ter
ENST00000675551.1:c.*20C>A	ENSP00000501945.1:n.*20C>A
ENST00000675808.1:c.351C>A	ENSP00000502310.1:p.Tyr117Ter
ENST00000675819.1:c.351C>A	ENSP00000502018.1:p.Tyr117Ter
ENST00000675854.1:c.147C>A	ENSP00000502324.1:p.Tyr49Ter
ENST00000675950.1:c.351C>A	ENSP00000501546.1:p.Tyr117Ter
ENST00000676002.1:n.344C>A
ENST00000676161.1:c.210C>A	ENSP00000501766.1:p.Tyr70Ter
ENST00000676221.1:c.351C>A	ENSP00000502601.1:p.Tyr117Ter
ENST00000676329.1:c.453C>A	ENSP00000501698.1:p.Tyr151Ter
ENST00000312280.7:c.351C>A	ENSP00000308937.3:p.Tyr117Ter
ENST00000395936.5:c.*60C>A	ENSP00000379268.1:n.*60C>A
ENST00000395938.6:c.351C>A	ENSP00000379269.2:p.Tyr117Ter
ENST00000494511.5:c.172C>A	ENSP00000462782.1:p.His58Asn
ENST00000612492.4:c.351C>A	ENSP00000484631.1:p.Tyr117Ter
NM_000304.3:c.351C>A	NP_000295.1:p.Tyr117Ter
NM_001281455.1:c.351C>A	NP_001268384.1:p.Tyr117Ter
NM_001281456.1:c.351C>A	NP_001268385.1:p.Tyr117Ter
NM_153321.2:c.351C>A	NP_696996.1:p.Tyr117Ter
NM_153322.2:c.351C>A	NP_696997.1:p.Tyr117Ter
NR_104017.1:n.477C>A
NR_104018.1:n.377C>A
NM_000304.4:c.351C>A MANE Select	NP_000295.1:p.Tyr117Ter
NM_001281456.2:c.351C>A	NP_001268385.1:p.Tyr117Ter
NM_153321.3:c.351C>A	NP_696996.1:p.Tyr117Ter
NM_153322.3:c.351C>A	NP_696997.1:p.Tyr117Ter
NR_104017.2:n.446C>A
NR_104018.2:n.346C>A
NM_001281455.2:c.351C>A	NP_001268384.1:p.Tyr117Ter