Canonical Allele Identifier: CA398739558

Gene: PMP22

Linked Data

• dbSNP Id: rs1906267118
• gnomAD v3: 17-15230973-A-C
• gnomAD v4: 17-15230973-A-C
• MyVariant Identifiers: chr17:g.15134290A>C (hg19) ; chr17:g.15230973A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.15230973A>C , CM000679.2:g.15230973A>C	GRCh38
NC_000017.10:g.15134290A>C , CM000679.1:g.15134290A>C	GRCh37
NC_000017.9:g.15075015A>C	NCBI36
NG_007949.1:g.39355T>G , LRG_263:g.39355T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000312280.9:c.427T>G MANE Select	ENSP00000308937.3:p.Phe143Val
ENST00000395936.7:c.*136T>G	ENSP00000379268.1:n.*136T>G
ENST00000395938.7:c.416T>G	ENSP00000379269.3:p.Leu139Arg
ENST00000494511.7:c.223T>G	ENSP00000462782.2:p.Phe75Val
ENST00000580584.3:c.223T>G	ENSP00000464468.3:p.Phe75Val
ENST00000612492.5:c.427T>G	ENSP00000484631.1:p.Phe143Val
ENST00000643451.2:c.*282T>G	ENSP00000494628.1:n.*282T>G
ENST00000644020.1:c.*136T>G	ENSP00000496522.1:n.*136T>G
ENST00000646419.2:c.*136T>G	ENSP00000494871.1:n.*136T>G
ENST00000674651.1:c.427T>G	ENSP00000501727.1:p.Phe143Val
ENST00000674673.1:c.427T>G	ENSP00000501804.1:p.Phe143Val
ENST00000674707.1:c.223T>G	ENSP00000502250.1:p.Phe75Val
ENST00000674868.1:c.427T>G	ENSP00000502835.1:p.Phe143Val
ENST00000674871.1:n.443T>G
ENST00000674947.1:c.416T>G	ENSP00000501580.1:p.Leu139Arg
ENST00000675197.1:n.407T>G
ENST00000675350.1:c.427T>G	ENSP00000501557.1:p.Phe143Val
ENST00000675551.1:c.*96T>G	ENSP00000501945.1:n.*96T>G
ENST00000675808.1:c.427T>G	ENSP00000502310.1:p.Phe143Val
ENST00000675819.1:c.427T>G	ENSP00000502018.1:p.Phe143Val
ENST00000675854.1:c.223T>G	ENSP00000502324.1:p.Phe75Val
ENST00000675950.1:c.427T>G	ENSP00000501546.1:p.Phe143Val
ENST00000676002.1:n.420T>G
ENST00000676161.1:c.286T>G	ENSP00000501766.1:p.Phe96Val
ENST00000676221.1:c.427T>G	ENSP00000502601.1:p.Phe143Val
ENST00000676329.1:c.529T>G	ENSP00000501698.1:p.Phe177Val
ENST00000312280.7:c.427T>G	ENSP00000308937.3:p.Phe143Val
ENST00000395936.5:c.*136T>G	ENSP00000379268.1:n.*136T>G
ENST00000395938.6:c.427T>G	ENSP00000379269.2:p.Phe143Val
ENST00000494511.5:c.248T>G	ENSP00000462782.1:p.Leu83Arg
ENST00000612492.4:c.427T>G	ENSP00000484631.1:p.Phe143Val
NM_000304.3:c.427T>G	NP_000295.1:p.Phe143Val
NM_001281455.1:c.427T>G	NP_001268384.1:p.Phe143Val
NM_001281456.1:c.427T>G	NP_001268385.1:p.Phe143Val
NM_153321.2:c.427T>G	NP_696996.1:p.Phe143Val
NM_153322.2:c.427T>G	NP_696997.1:p.Phe143Val
NR_104017.1:n.553T>G
NR_104018.1:n.453T>G
NM_000304.4:c.427T>G MANE Select	NP_000295.1:p.Phe143Val
NM_001281456.2:c.427T>G	NP_001268385.1:p.Phe143Val
NM_153321.3:c.427T>G	NP_696996.1:p.Phe143Val
NM_153322.3:c.427T>G	NP_696997.1:p.Phe143Val
NR_104017.2:n.522T>G
NR_104018.2:n.422T>G
NM_001281455.2:c.427T>G	NP_001268384.1:p.Phe143Val