Canonical Allele Identifier: CA398739641

Gene: PMP22

Linked Data

• MyVariant Identifiers: chr17:g.15134322T>G (hg19) ; chr17:g.15231005T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.15231005T>G , CM000679.2:g.15231005T>G	GRCh38
NC_000017.10:g.15134322T>G , CM000679.1:g.15134322T>G	GRCh37
NC_000017.9:g.15075047T>G	NCBI36
NG_007949.1:g.39323A>C , LRG_263:g.39323A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000312280.9:c.395A>C MANE Select	ENSP00000308937.3:p.Tyr132Ser
ENST00000395936.7:c.*104A>C	ENSP00000379268.1:n.*104A>C
ENST00000395938.7:c.384A>C	ENSP00000379269.3:p.Leu128=
ENST00000494511.7:c.191A>C	ENSP00000462782.2:p.Tyr64Ser
ENST00000580584.3:c.191A>C	ENSP00000464468.3:p.Tyr64Ser
ENST00000612492.5:c.395A>C	ENSP00000484631.1:p.Tyr132Ser
ENST00000643451.2:c.*250A>C	ENSP00000494628.1:n.*250A>C
ENST00000644020.1:c.*104A>C	ENSP00000496522.1:n.*104A>C
ENST00000646419.2:c.*104A>C	ENSP00000494871.1:n.*104A>C
ENST00000674651.1:c.395A>C	ENSP00000501727.1:p.Tyr132Ser
ENST00000674673.1:c.395A>C	ENSP00000501804.1:p.Tyr132Ser
ENST00000674707.1:c.191A>C	ENSP00000502250.1:p.Tyr64Ser
ENST00000674868.1:c.395A>C	ENSP00000502835.1:p.Tyr132Ser
ENST00000674871.1:n.411A>C
ENST00000674947.1:c.384A>C	ENSP00000501580.1:p.Leu128=
ENST00000675197.1:n.375A>C
ENST00000675350.1:c.395A>C	ENSP00000501557.1:p.Tyr132Ser
ENST00000675551.1:c.*64A>C	ENSP00000501945.1:n.*64A>C
ENST00000675808.1:c.395A>C	ENSP00000502310.1:p.Tyr132Ser
ENST00000675819.1:c.395A>C	ENSP00000502018.1:p.Tyr132Ser
ENST00000675854.1:c.191A>C	ENSP00000502324.1:p.Tyr64Ser
ENST00000675950.1:c.395A>C	ENSP00000501546.1:p.Tyr132Ser
ENST00000676002.1:n.388A>C
ENST00000676161.1:c.254A>C	ENSP00000501766.1:p.Tyr85Ser
ENST00000676221.1:c.395A>C	ENSP00000502601.1:p.Tyr132Ser
ENST00000676329.1:c.497A>C	ENSP00000501698.1:p.Tyr166Ser
ENST00000312280.7:c.395A>C	ENSP00000308937.3:p.Tyr132Ser
ENST00000395936.5:c.*104A>C	ENSP00000379268.1:n.*104A>C
ENST00000395938.6:c.395A>C	ENSP00000379269.2:p.Tyr132Ser
ENST00000494511.5:c.216A>C	ENSP00000462782.1:p.Leu72=
ENST00000612492.4:c.395A>C	ENSP00000484631.1:p.Tyr132Ser
NM_000304.3:c.395A>C	NP_000295.1:p.Tyr132Ser
NM_001281455.1:c.395A>C	NP_001268384.1:p.Tyr132Ser
NM_001281456.1:c.395A>C	NP_001268385.1:p.Tyr132Ser
NM_153321.2:c.395A>C	NP_696996.1:p.Tyr132Ser
NM_153322.2:c.395A>C	NP_696997.1:p.Tyr132Ser
NR_104017.1:n.521A>C
NR_104018.1:n.421A>C
NM_000304.4:c.395A>C MANE Select	NP_000295.1:p.Tyr132Ser
NM_001281456.2:c.395A>C	NP_001268385.1:p.Tyr132Ser
NM_153321.3:c.395A>C	NP_696996.1:p.Tyr132Ser
NM_153322.3:c.395A>C	NP_696997.1:p.Tyr132Ser
NR_104017.2:n.490A>C
NR_104018.2:n.390A>C
NM_001281455.2:c.395A>C	NP_001268384.1:p.Tyr132Ser