Canonical Allele Identifier: CA1240221500

Gene: MPV17

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27322510A= , CM000664.2:g.27322510A=	GRCh38
NC_000002.11:g.27545377A= , CM000664.1:g.27545377A=	GRCh37
NC_000002.10:g.27398881A=	NCBI36
NG_008075.1:g.5055T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380044.6:c.8T= MANE Select	ENSP00000369383.1:p.Leu3=
ENST00000233545.6:c.8T=	ENSP00000233545.2:p.Leu3=
ENST00000357186.10:c.18+1923T=	ENSP00000349713.6:n.18+1923T=
ENST00000380044.5:c.8T=	ENSP00000369383.1:p.Leu3=
ENST00000399052.8:c.8T=	ENSP00000382006.4:p.Leu3=
ENST00000402310.5:c.8T=	ENSP00000383955.1:p.Leu3=
ENST00000402722.5:c.8T=	ENSP00000386000.1:p.Leu3=
ENST00000403262.6:c.8T=	ENSP00000385671.1:p.Leu3=
ENST00000405076.5:c.8T=	ENSP00000385175.1:p.Leu3=
ENST00000405983.5:c.8T=	ENSP00000384586.1:p.Leu3=
ENST00000415514.5:c.8T=	ENSP00000388043.1:p.Leu3=
ENST00000426513.6:c.8T=	ENSP00000403824.2:p.Leu3=
ENST00000428910.5:c.-195T=	ENSP00000405235.1:n.-195T=
ENST00000486898.1:n.59T=
ENST00000494436.1:n.39T=
ENST00000617583.4:n.34T=
ENST00000621183.4:n.64T=
ENST00000621470.4:n.59T=
ENST00000622003.4:n.24T=
NM_002437.4:c.8T=	NP_002428.1:p.Leu3=
XM_005264326.2:c.8T=	XP_005264383.1:p.Leu3=
XM_005264327.2:c.-117T=	XP_005264384.1:n.-117T=
XM_006712021.2:c.-198T=	XP_006712084.1:n.-198T=
XM_005264326.4:c.8T=	XP_005264383.1:p.Leu3=
XM_006712021.3:c.-198T=	XP_006712084.1:n.-198T=
XM_017004150.1:c.-3245T=	XP_016859639.1:n.-3245T=
XM_017004151.1:c.-137T=	XP_016859640.1:n.-137T=
XM_017004152.1:c.-274T=	XP_016859641.1:n.-274T=
XM_024452913.1:c.-198T=	XP_024308681.1:n.-198T=
NM_002437.5:c.8T= MANE Select	NP_002428.1:p.Leu3=