Canonical Allele Identifier: CA1240217054
Gene: MPV17 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.27312424A= , CM000664.2:g.27312424A= GRCh38
NC_000002.11:g.27535292A= , CM000664.1:g.27535292A= GRCh37
NC_000002.10:g.27388796A= NCBI36
NG_008075.1:g.15140T=
NG_033055.1:g.839T=

Transcript Alleles

HGVS Amino-acid change
ENST00000380044.6:c.375+70T= MANE Select ENSP00000369383.1:n.375+70T=
ENST00000233545.6:c.375+70T= ENSP00000233545.2:n.375+70T=
ENST00000357186.10:c.207+70T= ENSP00000349713.6:n.207+70T=
ENST00000380044.5:c.375+70T= ENSP00000369383.1:n.375+70T=
ENST00000402310.5:c.375+70T= ENSP00000383955.1:n.375+70T=
ENST00000402722.5:c.*40+70T= ENSP00000386000.1:n.*40+70T=
ENST00000403262.6:c.375+70T= ENSP00000385671.1:n.375+70T=
ENST00000405076.5:c.187-178T= ENSP00000385175.1:n.187-178T=
ENST00000405983.5:c.420+70T= ENSP00000384586.1:n.420+70T=
ENST00000415514.5:c.*176+70T= ENSP00000388043.1:n.*176+70T=
ENST00000426513.6:c.*40+70T= ENSP00000403824.2:n.*40+70T=
ENST00000428910.5:c.297+70T= ENSP00000405235.1:n.297+70T=
ENST00000430991.5:c.210-178T=
ENST00000475085.1:n.403+70T=
ENST00000616446.1:n.422T=
ENST00000616707.1:n.964T=
ENST00000617583.4:n.471T=
ENST00000620797.4:n.30T=
ENST00000621183.4:n.501T=
ENST00000621470.4:n.461T=
ENST00000622003.4:n.618T=
NM_002437.4:c.375+70T= NP_002428.1:n.375+70T=
XM_005264326.2:c.375+70T= XP_005264383.1:n.375+70T=
XM_005264327.2:c.216+70T= XP_005264384.1:n.216+70T=
XM_006712021.2:c.327+70T= XP_006712084.1:n.327+70T=
XM_005264326.4:c.375+70T= XP_005264383.1:n.375+70T=
XM_006712021.3:c.327+70T= XP_006712084.1:n.327+70T=
XM_017004150.1:c.357+70T= XP_016859639.1:n.357+70T=
XM_017004151.1:c.327+70T= XP_016859640.1:n.327+70T=
XM_017004152.1:c.216+70T= XP_016859641.1:n.216+70T=
XM_024452913.1:c.327+70T= XP_024308681.1:n.327+70T=
NM_002437.5:c.375+70T= MANE Select NP_002428.1:n.375+70T=