Canonical Allele Identifier: CA1240216816

Gene: MPV17

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27311916C= , CM000664.2:g.27311916C=	GRCh38
NC_000002.11:g.27534784C= , CM000664.1:g.27534784C=	GRCh37
NC_000002.10:g.27388288C=	NCBI36
NG_008075.1:g.15648G=
NG_033055.1:g.1347G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380044.6:c.444G= MANE Select	ENSP00000369383.1:p.Leu148=
ENST00000233545.6:c.444G=	ENSP00000233545.2:p.Leu148=
ENST00000357186.10:c.276G=	ENSP00000349713.6:p.Leu92=
ENST00000380044.5:c.444G=	ENSP00000369383.1:p.Leu148=
ENST00000402310.5:c.408+298G=	ENSP00000383955.1:n.408+298G=
ENST00000402722.5:c.*40+578G=	ENSP00000386000.1:n.*40+578G=
ENST00000403262.6:c.444G=	ENSP00000385671.1:p.Leu148=
ENST00000405076.5:c.255G=	ENSP00000385175.1:p.Leu85=
ENST00000405983.5:c.489G=	ENSP00000384586.1:p.Leu163=
ENST00000415514.5:c.*245G=	ENSP00000388043.1:n.*245G=
ENST00000426513.6:c.*109G=	ENSP00000403824.2:n.*109G=
ENST00000430991.5:c.278G=
ENST00000616707.1:n.1472G=
ENST00000620797.4:n.117G=
ENST00000621183.4:n.747G=
NM_002437.4:c.444G=	NP_002428.1:p.Leu148=
XM_005264326.2:c.444G=	XP_005264383.1:p.Leu148=
XM_005264327.2:c.285G=	XP_005264384.1:p.Leu95=
XM_006712021.2:c.396G=	XP_006712084.1:p.Leu132=
XM_005264326.4:c.444G=	XP_005264383.1:p.Leu148=
XM_006712021.3:c.396G=	XP_006712084.1:p.Leu132=
XM_017004150.1:c.426G=	XP_016859639.1:p.Leu142=
XM_017004151.1:c.396G=	XP_016859640.1:p.Leu132=
XM_017004152.1:c.285G=	XP_016859641.1:p.Leu95=
XM_024452913.1:c.396G=	XP_024308681.1:p.Leu132=
NM_002437.5:c.444G= MANE Select	NP_002428.1:p.Leu148=