Canonical Allele Identifier: CA425394396

Gene: MPV17

Linked Data

• MyVariant Identifiers: chr2:g.27535363G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27312496G>T , CM000664.2:g.27312496G>T	GRCh38
NC_000002.11:g.27535363G>T , CM000664.1:g.27535363G>T	GRCh37
NC_000002.10:g.27388867G>T	NCBI36
NG_008075.1:g.15069C>A
NG_033055.1:g.768C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380044.6:c.373C>A MANE Select	ENSP00000369383.1:p.Arg125=
ENST00000233545.6:c.373C>A	ENSP00000233545.2:p.Arg125=
ENST00000357186.10:c.205C>A	ENSP00000349713.6:p.Arg69=
ENST00000380044.5:c.373C>A	ENSP00000369383.1:p.Arg125=
ENST00000402310.5:c.373C>A	ENSP00000383955.1:p.Arg125=
ENST00000402722.5:c.*38C>A	ENSP00000386000.1:n.*38C>A
ENST00000403262.6:c.373C>A	ENSP00000385671.1:p.Arg125=
ENST00000405076.5:c.187-250C>A	ENSP00000385175.1:n.187-250C>A
ENST00000405983.5:c.418C>A	ENSP00000384586.1:p.Arg140=
ENST00000415514.5:c.*174C>A	ENSP00000388043.1:n.*174C>A
ENST00000426513.6:c.*38C>A	ENSP00000403824.2:n.*38C>A
ENST00000428910.5:c.295C>A	ENSP00000405235.1:p.Arg99=
ENST00000430991.5:c.209+184C>A
ENST00000475085.1:n.401C>A
ENST00000616446.1:n.350C>A
ENST00000616707.1:n.892C>A
ENST00000617583.4:n.399C>A
ENST00000621183.4:n.429C>A
ENST00000621470.4:n.389C>A
ENST00000622003.4:n.546C>A
NM_002437.4:c.373C>A	NP_002428.1:p.Arg125=
XM_005264326.2:c.373C>A	XP_005264383.1:p.Arg125=
XM_005264327.2:c.214C>A	XP_005264384.1:p.Arg72=
XM_006712021.2:c.325C>A	XP_006712084.1:p.Arg109=
XM_005264326.4:c.373C>A	XP_005264383.1:p.Arg125=
XM_006712021.3:c.325C>A	XP_006712084.1:p.Arg109=
XM_017004150.1:c.355C>A	XP_016859639.1:p.Arg119=
XM_017004151.1:c.325C>A	XP_016859640.1:p.Arg109=
XM_017004152.1:c.214C>A	XP_016859641.1:p.Arg72=
XM_024452913.1:c.325C>A	XP_024308681.1:p.Arg109=
NM_002437.5:c.373C>A MANE Select	NP_002428.1:p.Arg125=