Canonical Allele Identifier: CA346208340

Gene: MPV17

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27312585C>T , CM000664.2:g.27312585C>T	GRCh38
NC_000002.11:g.27535452C>T , CM000664.1:g.27535452C>T	GRCh37
NC_000002.10:g.27388956C>T	NCBI36
NG_008075.1:g.14980G>A
NG_033055.1:g.679G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380044.6:c.284G>A MANE Select	ENSP00000369383.1:p.Gly95Asp
ENST00000233545.6:c.284G>A	ENSP00000233545.2:p.Gly95Asp
ENST00000357186.10:c.116G>A	ENSP00000349713.6:p.Gly39Asp
ENST00000380044.5:c.284G>A	ENSP00000369383.1:p.Gly95Asp
ENST00000402310.5:c.284G>A	ENSP00000383955.1:p.Gly95Asp
ENST00000402722.5:c.249G>A	ENSP00000386000.1:p.Gly83=
ENST00000403262.6:c.284G>A	ENSP00000385671.1:p.Gly95Asp
ENST00000405076.5:c.187-339G>A	ENSP00000385175.1:n.187-339G>A
ENST00000405983.5:c.329G>A	ENSP00000384586.1:p.Gly110Asp
ENST00000415514.5:c.*85G>A	ENSP00000388043.1:n.*85G>A
ENST00000426513.6:c.249G>A	ENSP00000403824.2:p.Gly83=
ENST00000428910.5:c.206G>A	ENSP00000405235.1:p.Gly69Asp
ENST00000430991.5:c.209+95G>A
ENST00000475085.1:n.312G>A
ENST00000616446.1:n.261G>A
ENST00000616707.1:n.803G>A
ENST00000617583.4:n.310G>A
ENST00000621183.4:n.340G>A
ENST00000621470.4:n.300G>A
ENST00000622003.4:n.457G>A
NM_002437.4:c.284G>A	NP_002428.1:p.Gly95Asp
XM_005264326.2:c.284G>A	XP_005264383.1:p.Gly95Asp
XM_005264327.2:c.125G>A	XP_005264384.1:p.Gly42Asp
XM_006712021.2:c.236G>A	XP_006712084.1:p.Gly79Asp
XM_005264326.4:c.284G>A	XP_005264383.1:p.Gly95Asp
XM_006712021.3:c.236G>A	XP_006712084.1:p.Gly79Asp
XM_017004150.1:c.266G>A	XP_016859639.1:p.Gly89Asp
XM_017004151.1:c.236G>A	XP_016859640.1:p.Gly79Asp
XM_017004152.1:c.125G>A	XP_016859641.1:p.Gly42Asp
XM_024452913.1:c.236G>A	XP_024308681.1:p.Gly79Asp
NM_002437.5:c.284G>A MANE Select	NP_002428.1:p.Gly95Asp