Canonical Allele Identifier: CA334032

Gene: PMP22

Linked Data

• ClinVar Variation Id: 188095
• ClinVar RCV Id: RCV000167942 ; RCV000493971
• dbSNP Id: rs786204064
• MyVariant Identifiers: chr17:g.15142799T>C (hg19) ; chr17:g.15239482T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.15239482T>C , CM000679.2:g.15239482T>C	GRCh38
NC_000017.10:g.15142799T>C , CM000679.1:g.15142799T>C	GRCh37
NC_000017.9:g.15083524T>C	NCBI36
NG_007949.1:g.30846A>G , LRG_263:g.30846A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000312280.9:c.308A>G MANE Select	ENSP00000308937.3:p.Gln103Arg
ENST00000395936.7:c.308A>G	ENSP00000379268.1:p.Gln103Arg
ENST00000395938.7:c.297A>G	ENSP00000379269.3:p.Pro99=
ENST00000426385.4:c.308A>G	ENSP00000409824.3:p.Gln103Arg
ENST00000494511.7:c.104A>G	ENSP00000462782.2:p.Gln35Arg
ENST00000580584.3:c.104A>G	ENSP00000464468.3:p.Gln35Arg
ENST00000612492.5:c.308A>G	ENSP00000484631.1:p.Gln103Arg
ENST00000643451.2:c.308A>G	ENSP00000494628.1:p.Gln103Arg
ENST00000644020.1:c.308A>G	ENSP00000496522.1:p.Gln103Arg
ENST00000646419.2:c.308A>G	ENSP00000494871.1:p.Gln103Arg
ENST00000674651.1:c.308A>G	ENSP00000501727.1:p.Gln103Arg
ENST00000674673.1:c.308A>G	ENSP00000501804.1:p.Gln103Arg
ENST00000674707.1:c.104A>G	ENSP00000502250.1:p.Gln35Arg
ENST00000674868.1:c.308A>G	ENSP00000502835.1:p.Gln103Arg
ENST00000674871.1:n.324A>G
ENST00000674947.1:c.297A>G	ENSP00000501580.1:p.Pro99=
ENST00000675197.1:n.288A>G
ENST00000675350.1:c.308A>G	ENSP00000501557.1:p.Gln103Arg
ENST00000675551.1:c.308A>G	ENSP00000501945.1:p.Gln103Arg
ENST00000675808.1:c.308A>G	ENSP00000502310.1:p.Gln103Arg
ENST00000675819.1:c.308A>G	ENSP00000502018.1:p.Gln103Arg
ENST00000675854.1:c.104A>G	ENSP00000502324.1:p.Gln35Arg
ENST00000675950.1:c.308A>G	ENSP00000501546.1:p.Gln103Arg
ENST00000676161.1:c.179-8402A>G	ENSP00000501766.1:n.179-8402A>G
ENST00000676221.1:c.308A>G	ENSP00000502601.1:p.Gln103Arg
ENST00000676329.1:c.410A>G	ENSP00000501698.1:p.Gln137Arg
ENST00000312280.7:c.308A>G	ENSP00000308937.3:p.Gln103Arg
ENST00000395936.5:c.308A>G	ENSP00000379268.1:p.Gln103Arg
ENST00000395938.6:c.308A>G	ENSP00000379269.2:p.Gln103Arg
ENST00000426385.3:c.308A>G	ENSP00000409824.3:p.Gln103Arg
ENST00000494511.5:c.129A>G	ENSP00000462782.1:p.Pro43=
ENST00000580584.1:c.129A>G	ENSP00000464468.1:p.Pro43=
ENST00000612492.4:c.308A>G	ENSP00000484631.1:p.Gln103Arg
NM_000304.3:c.308A>G	NP_000295.1:p.Gln103Arg
NM_001281455.1:c.308A>G	NP_001268384.1:p.Gln103Arg
NM_001281456.1:c.308A>G	NP_001268385.1:p.Gln103Arg
NM_153321.2:c.308A>G	NP_696996.1:p.Gln103Arg
NM_153322.2:c.308A>G	NP_696997.1:p.Gln103Arg
NR_104017.1:n.434A>G
NR_104018.1:n.334A>G
XM_011523943.1:c.308A>G	XP_011522245.1:p.Gln103Arg
NM_001330143.1:c.308A>G	NP_001317072.1:p.Gln103Arg
XM_024450806.1:c.308A>G	XP_024306574.1:p.Gln103Arg
NM_000304.4:c.308A>G MANE Select	NP_000295.1:p.Gln103Arg
NM_001281456.2:c.308A>G	NP_001268385.1:p.Gln103Arg
NM_001330143.2:c.308A>G	NP_001317072.1:p.Gln103Arg
NM_153321.3:c.308A>G	NP_696996.1:p.Gln103Arg
NM_153322.3:c.308A>G	NP_696997.1:p.Gln103Arg
NR_104017.2:n.403A>G
NR_104018.2:n.303A>G
NM_001281455.2:c.308A>G	NP_001268384.1:p.Gln103Arg