Canonical Allele Identifier: CA1240217370

Gene: MPV17

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27313081G= , CM000664.2:g.27313081G=	GRCh38
NC_000002.11:g.27535948G= , CM000664.1:g.27535948G=	GRCh37
NC_000002.10:g.27389452G=	NCBI36
NG_008075.1:g.14484C=
NG_033055.1:g.183C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380044.6:c.99C= MANE Select	ENSP00000369383.1:p.Ile33=
ENST00000233545.6:c.99C=	ENSP00000233545.2:p.Ile33=
ENST00000357186.10:c.19-309C=	ENSP00000349713.6:n.19-309C=
ENST00000380044.5:c.99C=	ENSP00000369383.1:p.Ile33=
ENST00000402310.5:c.99C=	ENSP00000383955.1:p.Ile33=
ENST00000402722.5:c.71-7C=	ENSP00000386000.1:n.71-7C=
ENST00000403262.6:c.99C=	ENSP00000385671.1:p.Ile33=
ENST00000405076.5:c.99C=	ENSP00000385175.1:p.Ile33=
ENST00000405983.5:c.144C=	ENSP00000384586.1:p.Ile48=
ENST00000415514.5:c.228-309C=	ENSP00000388043.1:n.228-309C=
ENST00000426513.6:c.71-7C=	ENSP00000403824.2:n.71-7C=
ENST00000428910.5:c.21C=	ENSP00000405235.1:p.Ile7=
ENST00000430991.5:c.29C=
ENST00000616446.1:n.76C=
ENST00000616707.1:n.307C=
ENST00000617583.4:n.125C=
ENST00000621183.4:n.155C=
ENST00000621470.4:n.122-7C=
ENST00000622003.4:n.272C=
NM_002437.4:c.99C=	NP_002428.1:p.Ile33=
XM_005264326.2:c.99C=	XP_005264383.1:p.Ile33=
XM_005264327.2:c.-54-7C=	XP_005264384.1:n.-54-7C=
XM_006712021.2:c.51C=	XP_006712084.1:p.Ile17=
XM_005264326.4:c.99C=	XP_005264383.1:p.Ile33=
XM_006712021.3:c.51C=	XP_006712084.1:p.Ile17=
XM_017004150.1:c.81C=	XP_016859639.1:p.Ile27=
XM_017004151.1:c.51C=	XP_016859640.1:p.Ile17=
XM_017004152.1:c.-54-7C=	XP_016859641.1:n.-54-7C=
XM_024452913.1:c.51C=	XP_024308681.1:p.Ile17=
NM_002437.5:c.99C= MANE Select	NP_002428.1:p.Ile33=