Canonical Allele Identifier: CA44518124
Gene: MPV17 HGNC NCBI

Linked Data

ClinVar Variation Id: 1249078
ClinVar RCV Id: RCV001655015
dbSNP Id: rs5830041

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.27312446dup , CM000664.2:g.27312446dup GRCh38

Transcript Alleles

HGVS Amino-acid Change
ENST00000380044.6:c.375+50dup MANE Select ENSP00000369383.1:n.375+50dup
ENST00000233545.6:c.375+50dup ENSP00000233545.2:n.375+50dup
ENST00000357186.10:c.207+50dup ENSP00000349713.6:n.207+50dup
ENST00000380044.5:c.375+50dup ENSP00000369383.1:n.375+50dup
ENST00000402310.5:c.375+50dup ENSP00000383955.1:n.375+50dup
ENST00000402722.5:c.*40+50dup ENSP00000386000.1:n.*40+50dup
ENST00000403262.6:c.375+50dup ENSP00000385671.1:n.375+50dup
ENST00000405076.5:c.187-198dup ENSP00000385175.1:n.187-198dup
ENST00000405983.5:c.420+50dup ENSP00000384586.1:n.420+50dup
ENST00000415514.5:c.*176+50dup ENSP00000388043.1:n.*176+50dup
ENST00000426513.6:c.*40+50dup ENSP00000403824.2:n.*40+50dup
ENST00000428910.5:c.297+50dup ENSP00000405235.1:n.297+50dup
ENST00000430991.5:c.210-198dup
ENST00000475085.1:n.403+50dup
ENST00000616446.1:n.402dup
ENST00000616707.1:n.944dup
ENST00000617583.4:n.451dup
ENST00000620797.4:n.10dup
ENST00000621183.4:n.481dup
ENST00000621470.4:n.441dup
ENST00000622003.4:n.598dup
NM_002437.4:c.375+50dup NP_002428.1:n.375+50dup
XM_005264326.2:c.375+50dup XP_005264383.1:n.375+50dup
XM_005264327.2:c.216+50dup XP_005264384.1:n.216+50dup
XM_006712021.2:c.327+50dup XP_006712084.1:n.327+50dup
XM_005264326.4:c.375+50dup XP_005264383.1:n.375+50dup
XM_006712021.3:c.327+50dup XP_006712084.1:n.327+50dup
XM_017004150.1:c.357+50dup XP_016859639.1:n.357+50dup
XM_017004151.1:c.327+50dup XP_016859640.1:n.327+50dup
XM_017004152.1:c.216+50dup XP_016859641.1:n.216+50dup
XM_024452913.1:c.327+50dup XP_024308681.1:n.327+50dup
NM_002437.5:c.375+50dup MANE Select NP_002428.1:n.375+50dup