Canonical Allele Identifier: CA1575657
Gene: MPV17 HGNC NCBI

Linked Data

ClinVar Variation Id: 335527
dbSNP Id: rs575558175
gnomAD v2: 2-27535883-A-G
gnomAD v3: 2-27313016-A-G
gnomAD v4: 2-27313016-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.27313016A>G , CM000664.2:g.27313016A>G GRCh38
NC_000002.11:g.27535883A>G , CM000664.1:g.27535883A>G GRCh37
NC_000002.10:g.27389387A>G NCBI36
NG_008075.1:g.14549T>C
NG_033055.1:g.248T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000380044.6:c.164T>C MANE Select ENSP00000369383.1:p.Val55Ala
ENST00000233545.6:c.164T>C ENSP00000233545.2:p.Val55Ala
ENST00000357186.10:c.19-244T>C ENSP00000349713.6:n.19-244T>C
ENST00000380044.5:c.164T>C ENSP00000369383.1:p.Val55Ala
ENST00000402310.5:c.164T>C ENSP00000383955.1:p.Val55Ala
ENST00000402722.5:c.129T>C ENSP00000386000.1:p.Gly43=
ENST00000403262.6:c.164T>C ENSP00000385671.1:p.Val55Ala
ENST00000405076.5:c.164T>C ENSP00000385175.1:p.Val55Ala
ENST00000405983.5:c.209T>C ENSP00000384586.1:p.Val70Ala
ENST00000415514.5:c.228-244T>C ENSP00000388043.1:n.228-244T>C
ENST00000426513.6:c.129T>C ENSP00000403824.2:p.Gly43=
ENST00000428910.5:c.86T>C ENSP00000405235.1:p.Val29Ala
ENST00000430991.5:c.94T>C
ENST00000616446.1:n.141T>C
ENST00000616707.1:n.372T>C
ENST00000617583.4:n.190T>C
ENST00000621183.4:n.220T>C
ENST00000621470.4:n.180T>C
ENST00000622003.4:n.337T>C
NM_002437.4:c.164T>C NP_002428.1:p.Val55Ala
XM_005264326.2:c.164T>C XP_005264383.1:p.Val55Ala
XM_005264327.2:c.5T>C XP_005264384.1:p.Val2Ala
XM_006712021.2:c.116T>C XP_006712084.1:p.Val39Ala
XM_005264326.4:c.164T>C XP_005264383.1:p.Val55Ala
XM_006712021.3:c.116T>C XP_006712084.1:p.Val39Ala
XM_017004150.1:c.146T>C XP_016859639.1:p.Val49Ala
XM_017004151.1:c.116T>C XP_016859640.1:p.Val39Ala
XM_017004152.1:c.5T>C XP_016859641.1:p.Val2Ala
XM_024452913.1:c.116T>C XP_024308681.1:p.Val39Ala
NM_002437.5:c.164T>C MANE Select NP_002428.1:p.Val55Ala