Canonical Allele Identifier: CA1240217103

Gene: MPV17

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27312512G= , CM000664.2:g.27312512G=	GRCh38
NC_000002.11:g.27535379G= , CM000664.1:g.27535379G=	GRCh37
NC_000002.10:g.27388883G=	NCBI36
NG_008075.1:g.15053C=
NG_033055.1:g.752C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380044.6:c.357C= MANE Select	ENSP00000369383.1:p.Asn119=
ENST00000233545.6:c.357C=	ENSP00000233545.2:p.Asn119=
ENST00000357186.10:c.189C=	ENSP00000349713.6:p.Asn63=
ENST00000380044.5:c.357C=	ENSP00000369383.1:p.Asn119=
ENST00000402310.5:c.357C=	ENSP00000383955.1:p.Asn119=
ENST00000402722.5:c.*22C=	ENSP00000386000.1:n.*22C=
ENST00000403262.6:c.357C=	ENSP00000385671.1:p.Asn119=
ENST00000405076.5:c.187-266C=	ENSP00000385175.1:n.187-266C=
ENST00000405983.5:c.402C=	ENSP00000384586.1:p.Asn134=
ENST00000415514.5:c.*158C=	ENSP00000388043.1:n.*158C=
ENST00000426513.6:c.*22C=	ENSP00000403824.2:n.*22C=
ENST00000428910.5:c.279C=	ENSP00000405235.1:p.Asn93=
ENST00000430991.5:c.209+168C=
ENST00000475085.1:n.385C=
ENST00000616446.1:n.334C=
ENST00000616707.1:n.876C=
ENST00000617583.4:n.383C=
ENST00000621183.4:n.413C=
ENST00000621470.4:n.373C=
ENST00000622003.4:n.530C=
NM_002437.4:c.357C=	NP_002428.1:p.Asn119=
XM_005264326.2:c.357C=	XP_005264383.1:p.Asn119=
XM_005264327.2:c.198C=	XP_005264384.1:p.Asn66=
XM_006712021.2:c.309C=	XP_006712084.1:p.Asn103=
XM_005264326.4:c.357C=	XP_005264383.1:p.Asn119=
XM_006712021.3:c.309C=	XP_006712084.1:p.Asn103=
XM_017004150.1:c.339C=	XP_016859639.1:p.Asn113=
XM_017004151.1:c.309C=	XP_016859640.1:p.Asn103=
XM_017004152.1:c.198C=	XP_016859641.1:p.Asn66=
XM_024452913.1:c.309C=	XP_024308681.1:p.Asn103=
NM_002437.5:c.357C= MANE Select	NP_002428.1:p.Asn119=