Canonical Allele Identifier: CA398739622

Gene: PMP22

Linked Data

• gnomAD v4: 17-15230997-C-G
• MyVariant Identifiers: chr17:g.15134314C>G (hg19) ; chr17:g.15230997C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.15230997C>G , CM000679.2:g.15230997C>G	GRCh38
NC_000017.10:g.15134314C>G , CM000679.1:g.15134314C>G	GRCh37
NC_000017.9:g.15075039C>G	NCBI36
NG_007949.1:g.39331G>C , LRG_263:g.39331G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000312280.9:c.403G>C MANE Select	ENSP00000308937.3:p.Ala135Pro
ENST00000395936.7:c.*112G>C	ENSP00000379268.1:n.*112G>C
ENST00000395938.7:c.392G>C	ENSP00000379269.3:p.Arg131Pro
ENST00000494511.7:c.199G>C	ENSP00000462782.2:p.Ala67Pro
ENST00000580584.3:c.199G>C	ENSP00000464468.3:p.Ala67Pro
ENST00000612492.5:c.403G>C	ENSP00000484631.1:p.Ala135Pro
ENST00000643451.2:c.*258G>C	ENSP00000494628.1:n.*258G>C
ENST00000644020.1:c.*112G>C	ENSP00000496522.1:n.*112G>C
ENST00000646419.2:c.*112G>C	ENSP00000494871.1:n.*112G>C
ENST00000674651.1:c.403G>C	ENSP00000501727.1:p.Ala135Pro
ENST00000674673.1:c.403G>C	ENSP00000501804.1:p.Ala135Pro
ENST00000674707.1:c.199G>C	ENSP00000502250.1:p.Ala67Pro
ENST00000674868.1:c.403G>C	ENSP00000502835.1:p.Ala135Pro
ENST00000674871.1:n.419G>C
ENST00000674947.1:c.392G>C	ENSP00000501580.1:p.Arg131Pro
ENST00000675197.1:n.383G>C
ENST00000675350.1:c.403G>C	ENSP00000501557.1:p.Ala135Pro
ENST00000675551.1:c.*72G>C	ENSP00000501945.1:n.*72G>C
ENST00000675808.1:c.403G>C	ENSP00000502310.1:p.Ala135Pro
ENST00000675819.1:c.403G>C	ENSP00000502018.1:p.Ala135Pro
ENST00000675854.1:c.199G>C	ENSP00000502324.1:p.Ala67Pro
ENST00000675950.1:c.403G>C	ENSP00000501546.1:p.Ala135Pro
ENST00000676002.1:n.396G>C
ENST00000676161.1:c.262G>C	ENSP00000501766.1:p.Ala88Pro
ENST00000676221.1:c.403G>C	ENSP00000502601.1:p.Ala135Pro
ENST00000676329.1:c.505G>C	ENSP00000501698.1:p.Ala169Pro
ENST00000312280.7:c.403G>C	ENSP00000308937.3:p.Ala135Pro
ENST00000395936.5:c.*112G>C	ENSP00000379268.1:n.*112G>C
ENST00000395938.6:c.403G>C	ENSP00000379269.2:p.Ala135Pro
ENST00000494511.5:c.224G>C	ENSP00000462782.1:p.Arg75Pro
ENST00000612492.4:c.403G>C	ENSP00000484631.1:p.Ala135Pro
NM_000304.3:c.403G>C	NP_000295.1:p.Ala135Pro
NM_001281455.1:c.403G>C	NP_001268384.1:p.Ala135Pro
NM_001281456.1:c.403G>C	NP_001268385.1:p.Ala135Pro
NM_153321.2:c.403G>C	NP_696996.1:p.Ala135Pro
NM_153322.2:c.403G>C	NP_696997.1:p.Ala135Pro
NR_104017.1:n.529G>C
NR_104018.1:n.429G>C
NM_000304.4:c.403G>C MANE Select	NP_000295.1:p.Ala135Pro
NM_001281456.2:c.403G>C	NP_001268385.1:p.Ala135Pro
NM_153321.3:c.403G>C	NP_696996.1:p.Ala135Pro
NM_153322.3:c.403G>C	NP_696997.1:p.Ala135Pro
NR_104017.2:n.498G>C
NR_104018.2:n.398G>C
NM_001281455.2:c.403G>C	NP_001268384.1:p.Ala135Pro