Canonical Allele Identifier: CA1240217332

Gene: MPV17

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27313013G= , CM000664.2:g.27313013G=	GRCh38
NC_000002.11:g.27535880G= , CM000664.1:g.27535880G=	GRCh37
NC_000002.10:g.27389384G=	NCBI36
NG_008075.1:g.14552C=
NG_033055.1:g.251C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380044.6:c.167C= MANE Select	ENSP00000369383.1:p.Ser56=
ENST00000233545.6:c.167C=	ENSP00000233545.2:p.Ser56=
ENST00000357186.10:c.19-241C=	ENSP00000349713.6:n.19-241C=
ENST00000380044.5:c.167C=	ENSP00000369383.1:p.Ser56=
ENST00000402310.5:c.167C=	ENSP00000383955.1:p.Ser56=
ENST00000402722.5:c.132C=	ENSP00000386000.1:p.Val44=
ENST00000403262.6:c.167C=	ENSP00000385671.1:p.Ser56=
ENST00000405076.5:c.167C=	ENSP00000385175.1:p.Ser56=
ENST00000405983.5:c.212C=	ENSP00000384586.1:p.Ser71=
ENST00000415514.5:c.228-241C=	ENSP00000388043.1:n.228-241C=
ENST00000426513.6:c.132C=	ENSP00000403824.2:p.Val44=
ENST00000428910.5:c.89C=	ENSP00000405235.1:p.Ser30=
ENST00000430991.5:c.97C=
ENST00000616446.1:n.144C=
ENST00000616707.1:n.375C=
ENST00000617583.4:n.193C=
ENST00000621183.4:n.223C=
ENST00000621470.4:n.183C=
ENST00000622003.4:n.340C=
NM_002437.4:c.167C=	NP_002428.1:p.Ser56=
XM_005264326.2:c.167C=	XP_005264383.1:p.Ser56=
XM_005264327.2:c.8C=	XP_005264384.1:p.Ser3=
XM_006712021.2:c.119C=	XP_006712084.1:p.Ser40=
XM_005264326.4:c.167C=	XP_005264383.1:p.Ser56=
XM_006712021.3:c.119C=	XP_006712084.1:p.Ser40=
XM_017004150.1:c.149C=	XP_016859639.1:p.Ser50=
XM_017004151.1:c.119C=	XP_016859640.1:p.Ser40=
XM_017004152.1:c.8C=	XP_016859641.1:p.Ser3=
XM_024452913.1:c.119C=	XP_024308681.1:p.Ser40=
NM_002437.5:c.167C= MANE Select	NP_002428.1:p.Ser56=