Canonical Allele Identifier: CA1240217186

Gene: MPV17

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27312691A= , CM000664.2:g.27312691A=	GRCh38
NC_000002.11:g.27535558A= , CM000664.1:g.27535558A=	GRCh37
NC_000002.10:g.27389062A=	NCBI36
NG_008075.1:g.14874T=
NG_033055.1:g.573T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380044.6:c.268T= MANE Select	ENSP00000369383.1:p.Leu90=
ENST00000233545.6:c.268T=	ENSP00000233545.2:p.Leu90=
ENST00000357186.10:c.100T=	ENSP00000349713.6:p.Leu34=
ENST00000380044.5:c.268T=	ENSP00000369383.1:p.Leu90=
ENST00000402310.5:c.268T=	ENSP00000383955.1:p.Leu90=
ENST00000402722.5:c.233T=	ENSP00000386000.1:p.Val78=
ENST00000403262.6:c.268T=	ENSP00000385671.1:p.Leu90=
ENST00000405076.5:c.186+303T=	ENSP00000385175.1:n.186+303T=
ENST00000405983.5:c.313T=	ENSP00000384586.1:p.Leu105=
ENST00000415514.5:c.*69T=	ENSP00000388043.1:n.*69T=
ENST00000426513.6:c.233T=	ENSP00000403824.2:p.Val78=
ENST00000428910.5:c.190T=	ENSP00000405235.1:p.Leu64=
ENST00000430991.5:c.198T=
ENST00000475085.1:n.296T=
ENST00000616446.1:n.245T=
ENST00000616707.1:n.697T=
ENST00000617583.4:n.294T=
ENST00000621183.4:n.324T=
ENST00000621470.4:n.284T=
ENST00000622003.4:n.441T=
NM_002437.4:c.268T=	NP_002428.1:p.Leu90=
XM_005264326.2:c.268T=	XP_005264383.1:p.Leu90=
XM_005264327.2:c.109T=	XP_005264384.1:p.Leu37=
XM_006712021.2:c.220T=	XP_006712084.1:p.Leu74=
XM_005264326.4:c.268T=	XP_005264383.1:p.Leu90=
XM_006712021.3:c.220T=	XP_006712084.1:p.Leu74=
XM_017004150.1:c.250T=	XP_016859639.1:p.Leu84=
XM_017004151.1:c.220T=	XP_016859640.1:p.Leu74=
XM_017004152.1:c.109T=	XP_016859641.1:p.Leu37=
XM_024452913.1:c.220T=	XP_024308681.1:p.Leu74=
NM_002437.5:c.268T= MANE Select	NP_002428.1:p.Leu90=