Canonical Allele Identifier: CA1240215845

Gene: MPV17

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27309913T= , CM000664.2:g.27309913T=	GRCh38
NC_000002.11:g.27532781T= , CM000664.1:g.27532781T=	GRCh37
NC_000002.10:g.27386285T=	NCBI36
NG_008075.1:g.17651A=
NG_033055.1:g.3350A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380044.6:c.530A= MANE Select	ENSP00000369383.1:p.Ter177=
ENST00000233545.6:c.530A=	ENSP00000233545.2:p.Ter177=
ENST00000357186.10:c.362A=	ENSP00000349713.6:p.Ter121=
ENST00000380044.5:c.530A=	ENSP00000369383.1:p.Ter177=
ENST00000402310.5:c.477A=	ENSP00000383955.1:p.Leu159=
ENST00000402722.5:c.*109A=	ENSP00000386000.1:n.*109A=
ENST00000405076.5:c.341A=	ENSP00000385175.1:p.Ter114=
ENST00000405983.5:c.575A=	ENSP00000384586.1:p.Ter192=
ENST00000415514.5:c.*331A=	ENSP00000388043.1:n.*331A=
ENST00000426513.6:c.*195A=	ENSP00000403824.2:n.*195A=
ENST00000430991.5:c.364A=
ENST00000620797.4:n.203A=
ENST00000621183.4:n.833A=
NM_002437.4:c.530A=	NP_002428.1:p.Ter177=
XM_005264326.2:c.530A=	XP_005264383.1:p.Ter177=
XM_005264327.2:c.371A=	XP_005264384.1:p.Ter124=
XM_006712021.2:c.482A=	XP_006712084.1:p.Ter161=
XM_005264326.4:c.530A=	XP_005264383.1:p.Ter177=
XM_006712021.3:c.482A=	XP_006712084.1:p.Ter161=
XM_017004150.1:c.512A=	XP_016859639.1:p.Ter171=
XM_017004151.1:c.482A=	XP_016859640.1:p.Ter161=
XM_017004152.1:c.371A=	XP_016859641.1:p.Ter124=
XM_024452913.1:c.482A=	XP_024308681.1:p.Ter161=
NM_002437.5:c.530A= MANE Select	NP_002428.1:p.Ter177=