Canonical Allele Identifier: CA323686
Gene: MPV17 HGNC NCBI

Linked Data

ClinVar Variation Id: 214660
dbSNP Id: rs863224072
gnomAD v2: 2-27535926-G-A
gnomAD v3: 2-27313059-G-A
gnomAD v4: 2-27313059-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.27313059G>A , CM000664.2:g.27313059G>A GRCh38
NC_000002.11:g.27535926G>A , CM000664.1:g.27535926G>A GRCh37
NC_000002.10:g.27389430G>A NCBI36
NG_008075.1:g.14506C>T
NG_033055.1:g.205C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000380044.6:c.121C>T MANE Select ENSP00000369383.1:p.Arg41Trp
ENST00000233545.6:c.121C>T ENSP00000233545.2:p.Arg41Trp
ENST00000357186.10:c.19-287C>T ENSP00000349713.6:n.19-287C>T
ENST00000380044.5:c.121C>T ENSP00000369383.1:p.Arg41Trp
ENST00000402310.5:c.121C>T ENSP00000383955.1:p.Arg41Trp
ENST00000402722.5:c.86C>T ENSP00000386000.1:p.Ala29Val
ENST00000403262.6:c.121C>T ENSP00000385671.1:p.Arg41Trp
ENST00000405076.5:c.121C>T ENSP00000385175.1:p.Arg41Trp
ENST00000405983.5:c.166C>T ENSP00000384586.1:p.Arg56Trp
ENST00000415514.5:c.228-287C>T ENSP00000388043.1:n.228-287C>T
ENST00000426513.6:c.86C>T ENSP00000403824.2:p.Ala29Val
ENST00000428910.5:c.43C>T ENSP00000405235.1:p.Arg15Trp
ENST00000430991.5:c.51C>T
ENST00000616446.1:n.98C>T
ENST00000616707.1:n.329C>T
ENST00000617583.4:n.147C>T
ENST00000621183.4:n.177C>T
ENST00000621470.4:n.137C>T
ENST00000622003.4:n.294C>T
NM_002437.4:c.121C>T NP_002428.1:p.Arg41Trp
XM_005264326.2:c.121C>T XP_005264383.1:p.Arg41Trp
XM_005264327.2:c.-39C>T XP_005264384.1:n.-39C>T
XM_006712021.2:c.73C>T XP_006712084.1:p.Arg25Trp
XM_005264326.4:c.121C>T XP_005264383.1:p.Arg41Trp
XM_006712021.3:c.73C>T XP_006712084.1:p.Arg25Trp
XM_017004150.1:c.103C>T XP_016859639.1:p.Arg35Trp
XM_017004151.1:c.73C>T XP_016859640.1:p.Arg25Trp
XM_017004152.1:c.-39C>T XP_016859641.1:n.-39C>T
XM_024452913.1:c.73C>T XP_024308681.1:p.Arg25Trp
NM_002437.5:c.121C>T MANE Select NP_002428.1:p.Arg41Trp