Canonical Allele Identifier: CA5336452
Community Standard Title: NM_015160.3(PMPCA):c.1330G>A (p.Val444Met)
Gene: PMPCA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.136421898G>A , CM000671.2:g.136421898G>A GRCh38
NC_000009.11:g.139316350G>A , CM000671.1:g.139316350G>A GRCh37
NC_000009.10:g.138436171G>A NCBI36
NG_046789.1:g.16326G>A

Transcript Alleles

HGVS Amino-acid Change
NM_015160.3:c.1330G>A MANE Select NP_055975.1:p.Val444Met
ENST00000371717.8:c.1330G>A MANE Select ENSP00000360782.3:p.Val444Met
NM_001282944.1:c.937G>A NP_001269873.1:p.Val313Met
NM_001282944.2:c.937G>A NP_001269873.1:p.Val313Met
NM_001282946.1:c.1030G>A NP_001269875.1:p.Val344Met
NM_001282946.2:c.1030G>A NP_001269875.1:p.Val344Met
NM_015160.2:c.1330G>A NP_055975.1:p.Val444Met
ENST00000371717.7:c.1330G>A ENSP00000360782.3:p.Val444Met
ENST00000399219.7:c.937G>A ENSP00000416702.2:p.Val313Met
ENST00000444897.2:c.454G>A ENSP00000408393.1:p.Val152Met
ENST00000444897.3:c.1330G>A ENSP00000408393.2:p.Val444Met
ENST00000612553.5:n.1917G>A
ENST00000706227.1:c.1330G>A ENSP00000516285.1:p.Val444Met
ENST00000706228.1:c.1330G>A ENSP00000516286.1:p.Val444Met
ENST00000706375.1:c.1330G>A ENSP00000516357.1:p.Val444Met
ENST00000706376.1:c.1399G>A ENSP00000516358.1:p.Val467Met
ENST00000706377.1:c.*673G>A ENSP00000516359.1:n.*673G>A
ENST00000706378.1:n.1917G>A
ENST00000706379.1:c.788G>A ENSP00000516360.1:p.Cys263Tyr
ENST00000706380.1:c.*639G>A ENSP00000516361.1:n.*639G>A
ENST00000706381.1:n.2789G>A
ENST00000706382.1:n.2716G>A
ENST00000706383.1:n.2214G>A
ENST00000706384.1:c.*850G>A ENSP00000516362.1:n.*850G>A
ENST00000706385.1:c.*470G>A ENSP00000516363.1:n.*470G>A
ENST00000706386.1:c.*639G>A ENSP00000516364.1:n.*639G>A
ENST00000706387.1:c.*794G>A ENSP00000516365.1:n.*794G>A
ENST00000706388.1:c.*639G>A ENSP00000516366.1:n.*639G>A
ENST00000706389.1:n.3564G>A
ENST00000706390.1:c.1205G>A ENSP00000516367.1:n.1205G>A
XM_005266059.3:c.1330G>A XP_005266116.1:p.Val444Met
XM_005266059.4:c.1330G>A XP_005266116.1:p.Val444Met
XM_011518417.1:c.784G>A XP_011516719.1:p.Val262Met
XM_011518417.3:c.784G>A XP_011516719.1:p.Val262Met
XM_017014543.2:c.784G>A XP_016870032.1:p.Val262Met