Canonical Allele Identifier: CA341382
Gene: MPV17 HGNC NCBI

Linked Data

ClinVar Variation Id: 16162
dbSNP Id: rs121909723
gnomAD v2: 2-27535899-G-A
gnomAD v3: 2-27313032-G-A
gnomAD v4: 2-27313032-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.27313032G>A , CM000664.2:g.27313032G>A GRCh38
NC_000002.11:g.27535899G>A , CM000664.1:g.27535899G>A GRCh37
NC_000002.10:g.27389403G>A NCBI36
NG_008075.1:g.14533C>T
NG_033055.1:g.232C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000380044.6:c.148C>T MANE Select ENSP00000369383.1:p.Arg50Trp
ENST00000233545.6:c.148C>T ENSP00000233545.2:p.Arg50Trp
ENST00000357186.10:c.19-260C>T ENSP00000349713.6:n.19-260C>T
ENST00000380044.5:c.148C>T ENSP00000369383.1:p.Arg50Trp
ENST00000402310.5:c.148C>T ENSP00000383955.1:p.Arg50Trp
ENST00000402722.5:c.113C>T ENSP00000386000.1:p.Pro38Leu
ENST00000403262.6:c.148C>T ENSP00000385671.1:p.Arg50Trp
ENST00000405076.5:c.148C>T ENSP00000385175.1:p.Arg50Trp
ENST00000405983.5:c.193C>T ENSP00000384586.1:p.Arg65Trp
ENST00000415514.5:c.228-260C>T ENSP00000388043.1:n.228-260C>T
ENST00000426513.6:c.113C>T ENSP00000403824.2:p.Pro38Leu
ENST00000428910.5:c.70C>T ENSP00000405235.1:p.Arg24Trp
ENST00000430991.5:c.78C>T
ENST00000616446.1:n.125C>T
ENST00000616707.1:n.356C>T
ENST00000617583.4:n.174C>T
ENST00000621183.4:n.204C>T
ENST00000621470.4:n.164C>T
ENST00000622003.4:n.321C>T
NM_002437.4:c.148C>T NP_002428.1:p.Arg50Trp
XM_005264326.2:c.148C>T XP_005264383.1:p.Arg50Trp
XM_005264327.2:c.-12C>T XP_005264384.1:n.-12C>T
XM_006712021.2:c.100C>T XP_006712084.1:p.Arg34Trp
XM_005264326.4:c.148C>T XP_005264383.1:p.Arg50Trp
XM_006712021.3:c.100C>T XP_006712084.1:p.Arg34Trp
XM_017004150.1:c.130C>T XP_016859639.1:p.Arg44Trp
XM_017004151.1:c.100C>T XP_016859640.1:p.Arg34Trp
XM_017004152.1:c.-12C>T XP_016859641.1:n.-12C>T
XM_024452913.1:c.100C>T XP_024308681.1:p.Arg34Trp
NM_002437.5:c.148C>T MANE Select NP_002428.1:p.Arg50Trp