Canonical Allele Identifier: CA398739816

Gene: PMP22

Linked Data

• MyVariant Identifiers: chr17:g.15134386T>G (hg19) ; chr17:g.15231069T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.15231069T>G , CM000679.2:g.15231069T>G	GRCh38
NC_000017.10:g.15134386T>G , CM000679.1:g.15134386T>G	GRCh37
NC_000017.9:g.15075111T>G	NCBI36
NG_007949.1:g.39259A>C , LRG_263:g.39259A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000312280.9:c.331A>C MANE Select	ENSP00000308937.3:p.Met111Leu
ENST00000395936.7:c.*40A>C	ENSP00000379268.1:n.*40A>C
ENST00000395938.7:c.320A>C	ENSP00000379269.3:p.Asp107Ala
ENST00000494511.7:c.127A>C	ENSP00000462782.2:p.Met43Leu
ENST00000580584.3:c.127A>C	ENSP00000464468.3:p.Met43Leu
ENST00000612492.5:c.331A>C	ENSP00000484631.1:p.Met111Leu
ENST00000643451.2:c.*186A>C	ENSP00000494628.1:n.*186A>C
ENST00000644020.1:c.*40A>C	ENSP00000496522.1:n.*40A>C
ENST00000646419.2:c.*40A>C	ENSP00000494871.1:n.*40A>C
ENST00000674651.1:c.331A>C	ENSP00000501727.1:p.Met111Leu
ENST00000674673.1:c.331A>C	ENSP00000501804.1:p.Met111Leu
ENST00000674707.1:c.127A>C	ENSP00000502250.1:p.Met43Leu
ENST00000674868.1:c.331A>C	ENSP00000502835.1:p.Met111Leu
ENST00000674871.1:n.347A>C
ENST00000674947.1:c.320A>C	ENSP00000501580.1:p.Asp107Ala
ENST00000675197.1:n.311A>C
ENST00000675350.1:c.331A>C	ENSP00000501557.1:p.Met111Leu
ENST00000675551.1:c.498A>C	ENSP00000501945.1:p.Ter166Cys
ENST00000675808.1:c.331A>C	ENSP00000502310.1:p.Met111Leu
ENST00000675819.1:c.331A>C	ENSP00000502018.1:p.Met111Leu
ENST00000675854.1:c.127A>C	ENSP00000502324.1:p.Met43Leu
ENST00000675950.1:c.331A>C	ENSP00000501546.1:p.Met111Leu
ENST00000676002.1:n.324A>C
ENST00000676161.1:c.190A>C	ENSP00000501766.1:p.Met64Leu
ENST00000676221.1:c.331A>C	ENSP00000502601.1:p.Met111Leu
ENST00000676329.1:c.433A>C	ENSP00000501698.1:p.Met145Leu
ENST00000312280.7:c.331A>C	ENSP00000308937.3:p.Met111Leu
ENST00000395936.5:c.*40A>C	ENSP00000379268.1:n.*40A>C
ENST00000395938.6:c.331A>C	ENSP00000379269.2:p.Met111Leu
ENST00000494511.5:c.152A>C	ENSP00000462782.1:p.Asp51Ala
ENST00000580584.1:c.152A>C	ENSP00000464468.1:p.Asp51Ala
ENST00000612492.4:c.331A>C	ENSP00000484631.1:p.Met111Leu
NM_000304.3:c.331A>C	NP_000295.1:p.Met111Leu
NM_001281455.1:c.331A>C	NP_001268384.1:p.Met111Leu
NM_001281456.1:c.331A>C	NP_001268385.1:p.Met111Leu
NM_153321.2:c.331A>C	NP_696996.1:p.Met111Leu
NM_153322.2:c.331A>C	NP_696997.1:p.Met111Leu
NR_104017.1:n.457A>C
NR_104018.1:n.357A>C
NM_000304.4:c.331A>C MANE Select	NP_000295.1:p.Met111Leu
NM_001281456.2:c.331A>C	NP_001268385.1:p.Met111Leu
NM_153321.3:c.331A>C	NP_696996.1:p.Met111Leu
NM_153322.3:c.331A>C	NP_696997.1:p.Met111Leu
NR_104017.2:n.426A>C
NR_104018.2:n.326A>C
NM_001281455.2:c.331A>C	NP_001268384.1:p.Met111Leu