Canonical Allele Identifier: CA4417922

Gene: PMPCB

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.103300205C>A , CM000669.2:g.103300205C>A	GRCh38
NC_000007.13:g.102940652C>A , CM000669.1:g.102940652C>A	GRCh37
NC_000007.12:g.102727888C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_004279.3:c.355C>A MANE Select	NP_004270.2:p.Leu119Met
ENST00000249269.9:c.355C>A MANE Select	ENSP00000249269.4:p.Leu119Met
NM_004279.2:c.355C>A	NP_004270.2:p.Leu119Met
ENST00000249269.8:c.355C>A	ENSP00000249269.4:p.Leu119Met
ENST00000428154.5:c.355C>A	ENSP00000390035.1:p.Leu119Met
ENST00000443722.5:c.359C>A	ENSP00000402859.1:p.Ser120Tyr
ENST00000444457.5:c.*381C>A	ENSP00000388934.1:n.*381C>A
ENST00000453466.1:c.350C>A	ENSP00000408682.1:p.Ser117Tyr
ENST00000456433.5:c.355C>A	ENSP00000397884.1:p.Leu119Met
ENST00000469560.2:n.395C>A
ENST00000498530.5:n.359C>A
ENST00000706437.1:c.355C>A	ENSP00000516380.1:p.Leu119Met
ENST00000706438.1:n.395C>A
ENST00000706439.1:c.355C>A	ENSP00000516381.1:p.Leu119Met
ENST00000706440.1:c.355C>A	ENSP00000516382.1:p.Leu119Met
ENST00000706441.1:n.395C>A
ENST00000706442.1:c.355C>A	ENSP00000516383.1:p.Leu119Met
ENST00000706443.1:c.355C>A	ENSP00000516384.1:p.Leu119Met
ENST00000706447.1:c.355C>A	ENSP00000516385.1:p.Leu119Met
ENST00000706448.1:c.355C>A	ENSP00000516386.1:p.Leu119Met
ENST00000706449.1:c.355C>A	ENSP00000516387.1:p.Leu119Met
ENST00000706450.1:c.355C>A	ENSP00000516388.1:p.Leu119Met
ENST00000706451.1:c.355C>A	ENSP00000516389.1:p.Leu119Met
ENST00000706452.1:c.355C>A	ENSP00000516390.1:p.Leu119Met
ENST00000706453.1:c.355C>A	ENSP00000516391.1:p.Leu119Met
ENST00000706454.1:c.355C>A	ENSP00000516392.1:p.Leu119Met
ENST00000706455.1:n.380C>A
ENST00000706456.1:c.355C>A	ENSP00000516393.1:p.Leu119Met
ENST00000706457.1:c.*381C>A	ENSP00000516394.1:n.*381C>A
ENST00000706458.1:n.1093C>A
ENST00000706459.1:c.355C>A	ENSP00000516395.1:p.Leu119Met
ENST00000706460.1:c.582C>A	ENSP00000516396.1:n.582C>A
ENST00000706461.1:n.505C>A
XM_005250717.2:c.355C>A	XP_005250774.1:p.Leu119Met
XM_005250717.4:c.355C>A	XP_005250774.1:p.Leu119Met
XM_006716181.2:c.355C>A	XP_006716244.1:p.Leu119Met
XM_006716181.4:c.355C>A	XP_006716244.1:p.Leu119Met
XR_242267.3:n.388C>A
XR_242267.5:n.380C>A