Canonical Allele Identifier: CA398739726

Gene: PMP22

Linked Data

• dbSNP Id: rs1906285551
• gnomAD v4: 17-15231037-G-T
• MyVariant Identifiers: chr17:g.15134354G>T (hg19) ; chr17:g.15231037G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.15231037G>T , CM000679.2:g.15231037G>T	GRCh38
NC_000017.10:g.15134354G>T , CM000679.1:g.15134354G>T	GRCh37
NC_000017.9:g.15075079G>T	NCBI36
NG_007949.1:g.39291C>A , LRG_263:g.39291C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000312280.9:c.363C>A MANE Select	ENSP00000308937.3:p.His121Gln
ENST00000395936.7:c.*72C>A	ENSP00000379268.1:n.*72C>A
ENST00000395938.7:c.352C>A	ENSP00000379269.3:p.Pro118Thr
ENST00000494511.7:c.159C>A	ENSP00000462782.2:p.His53Gln
ENST00000580584.3:c.159C>A	ENSP00000464468.3:p.His53Gln
ENST00000612492.5:c.363C>A	ENSP00000484631.1:p.His121Gln
ENST00000643451.2:c.*218C>A	ENSP00000494628.1:n.*218C>A
ENST00000644020.1:c.*72C>A	ENSP00000496522.1:n.*72C>A
ENST00000646419.2:c.*72C>A	ENSP00000494871.1:n.*72C>A
ENST00000674651.1:c.363C>A	ENSP00000501727.1:p.His121Gln
ENST00000674673.1:c.363C>A	ENSP00000501804.1:p.His121Gln
ENST00000674707.1:c.159C>A	ENSP00000502250.1:p.His53Gln
ENST00000674868.1:c.363C>A	ENSP00000502835.1:p.His121Gln
ENST00000674871.1:n.379C>A
ENST00000674947.1:c.352C>A	ENSP00000501580.1:p.Pro118Thr
ENST00000675197.1:n.343C>A
ENST00000675350.1:c.363C>A	ENSP00000501557.1:p.His121Gln
ENST00000675551.1:c.*32C>A	ENSP00000501945.1:n.*32C>A
ENST00000675808.1:c.363C>A	ENSP00000502310.1:p.His121Gln
ENST00000675819.1:c.363C>A	ENSP00000502018.1:p.His121Gln
ENST00000675854.1:c.159C>A	ENSP00000502324.1:p.His53Gln
ENST00000675950.1:c.363C>A	ENSP00000501546.1:p.His121Gln
ENST00000676002.1:n.356C>A
ENST00000676161.1:c.222C>A	ENSP00000501766.1:p.His74Gln
ENST00000676221.1:c.363C>A	ENSP00000502601.1:p.His121Gln
ENST00000676329.1:c.465C>A	ENSP00000501698.1:p.His155Gln
ENST00000312280.7:c.363C>A	ENSP00000308937.3:p.His121Gln
ENST00000395936.5:c.*72C>A	ENSP00000379268.1:n.*72C>A
ENST00000395938.6:c.363C>A	ENSP00000379269.2:p.His121Gln
ENST00000494511.5:c.184C>A	ENSP00000462782.1:p.Pro62Thr
ENST00000612492.4:c.363C>A	ENSP00000484631.1:p.His121Gln
NM_000304.3:c.363C>A	NP_000295.1:p.His121Gln
NM_001281455.1:c.363C>A	NP_001268384.1:p.His121Gln
NM_001281456.1:c.363C>A	NP_001268385.1:p.His121Gln
NM_153321.2:c.363C>A	NP_696996.1:p.His121Gln
NM_153322.2:c.363C>A	NP_696997.1:p.His121Gln
NR_104017.1:n.489C>A
NR_104018.1:n.389C>A
NM_000304.4:c.363C>A MANE Select	NP_000295.1:p.His121Gln
NM_001281456.2:c.363C>A	NP_001268385.1:p.His121Gln
NM_153321.3:c.363C>A	NP_696996.1:p.His121Gln
NM_153322.3:c.363C>A	NP_696997.1:p.His121Gln
NR_104017.2:n.458C>A
NR_104018.2:n.358C>A
NM_001281455.2:c.363C>A	NP_001268384.1:p.His121Gln