Canonical Allele Identifier: CA1240217105

Gene: MPV17

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27312515G= , CM000664.2:g.27312515G=	GRCh38
NC_000002.11:g.27535382G= , CM000664.1:g.27535382G=	GRCh37
NC_000002.10:g.27388886G=	NCBI36
NG_008075.1:g.15050C=
NG_033055.1:g.749C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380044.6:c.354C= MANE Select	ENSP00000369383.1:p.Asp118=
ENST00000233545.6:c.354C=	ENSP00000233545.2:p.Asp118=
ENST00000357186.10:c.186C=	ENSP00000349713.6:p.Asp62=
ENST00000380044.5:c.354C=	ENSP00000369383.1:p.Asp118=
ENST00000402310.5:c.354C=	ENSP00000383955.1:p.Asp118=
ENST00000402722.5:c.*19C=	ENSP00000386000.1:n.*19C=
ENST00000403262.6:c.354C=	ENSP00000385671.1:p.Asp118=
ENST00000405076.5:c.187-269C=	ENSP00000385175.1:n.187-269C=
ENST00000405983.5:c.399C=	ENSP00000384586.1:p.Asp133=
ENST00000415514.5:c.*155C=	ENSP00000388043.1:n.*155C=
ENST00000426513.6:c.*19C=	ENSP00000403824.2:n.*19C=
ENST00000428910.5:c.276C=	ENSP00000405235.1:p.Asp92=
ENST00000430991.5:c.209+165C=
ENST00000475085.1:n.382C=
ENST00000616446.1:n.331C=
ENST00000616707.1:n.873C=
ENST00000617583.4:n.380C=
ENST00000621183.4:n.410C=
ENST00000621470.4:n.370C=
ENST00000622003.4:n.527C=
NM_002437.4:c.354C=	NP_002428.1:p.Asp118=
XM_005264326.2:c.354C=	XP_005264383.1:p.Asp118=
XM_005264327.2:c.195C=	XP_005264384.1:p.Asp65=
XM_006712021.2:c.306C=	XP_006712084.1:p.Asp102=
XM_005264326.4:c.354C=	XP_005264383.1:p.Asp118=
XM_006712021.3:c.306C=	XP_006712084.1:p.Asp102=
XM_017004150.1:c.336C=	XP_016859639.1:p.Asp112=
XM_017004151.1:c.306C=	XP_016859640.1:p.Asp102=
XM_017004152.1:c.195C=	XP_016859641.1:p.Asp65=
XM_024452913.1:c.306C=	XP_024308681.1:p.Asp102=
NM_002437.5:c.354C= MANE Select	NP_002428.1:p.Asp118=