Canonical Allele Identifier: CA341380
Gene: MPV17 HGNC NCBI

Linked Data

ClinVar Variation Id: 16160
dbSNP Id: rs121909721
gnomAD v2: 2-27535898-C-T
gnomAD v4: 2-27313031-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.27313031C>T , CM000664.2:g.27313031C>T GRCh38
NC_000002.11:g.27535898C>T , CM000664.1:g.27535898C>T GRCh37
NC_000002.10:g.27389402C>T NCBI36
NG_008075.1:g.14534G>A
NG_033055.1:g.233G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000380044.6:c.149G>A MANE Select ENSP00000369383.1:p.Arg50Gln
ENST00000233545.6:c.149G>A ENSP00000233545.2:p.Arg50Gln
ENST00000357186.10:c.19-259G>A ENSP00000349713.6:n.19-259G>A
ENST00000380044.5:c.149G>A ENSP00000369383.1:p.Arg50Gln
ENST00000402310.5:c.149G>A ENSP00000383955.1:p.Arg50Gln
ENST00000402722.5:c.114G>A ENSP00000386000.1:p.Pro38=
ENST00000403262.6:c.149G>A ENSP00000385671.1:p.Arg50Gln
ENST00000405076.5:c.149G>A ENSP00000385175.1:p.Arg50Gln
ENST00000405983.5:c.194G>A ENSP00000384586.1:p.Arg65Gln
ENST00000415514.5:c.228-259G>A ENSP00000388043.1:n.228-259G>A
ENST00000426513.6:c.114G>A ENSP00000403824.2:p.Pro38=
ENST00000428910.5:c.71G>A ENSP00000405235.1:p.Arg24Gln
ENST00000430991.5:c.79G>A
ENST00000616446.1:n.126G>A
ENST00000616707.1:n.357G>A
ENST00000617583.4:n.175G>A
ENST00000621183.4:n.205G>A
ENST00000621470.4:n.165G>A
ENST00000622003.4:n.322G>A
NM_002437.4:c.149G>A NP_002428.1:p.Arg50Gln
XM_005264326.2:c.149G>A XP_005264383.1:p.Arg50Gln
XM_005264327.2:c.-11G>A XP_005264384.1:n.-11G>A
XM_006712021.2:c.101G>A XP_006712084.1:p.Arg34Gln
XM_005264326.4:c.149G>A XP_005264383.1:p.Arg50Gln
XM_006712021.3:c.101G>A XP_006712084.1:p.Arg34Gln
XM_017004150.1:c.131G>A XP_016859639.1:p.Arg44Gln
XM_017004151.1:c.101G>A XP_016859640.1:p.Arg34Gln
XM_017004152.1:c.-11G>A XP_016859641.1:n.-11G>A
XM_024452913.1:c.101G>A XP_024308681.1:p.Arg34Gln
NM_002437.5:c.149G>A MANE Select NP_002428.1:p.Arg50Gln