Canonical Allele Identifier: CA2479004727

Gene: VPS45

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.150081375G= , CM000663.2:g.150081375G=	GRCh38
NC_000001.10:g.150053457G= , CM000663.1:g.150053457G=	GRCh37
NC_000001.9:g.148320081G=	NCBI36
NG_033910.1:g.19083G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000419023.4:c.649G=	ENSP00000400143.3:p.Gly217=
ENST00000460366.6:n.853G=
ENST00000477558.3:n.1226G=
ENST00000497638.3:n.1504G=
ENST00000642919.2:c.*618G=	ENSP00000494763.1:n.*618G=
ENST00000643970.2:c.613G=	ENSP00000495148.1:p.Gly205=
ENST00000644526.2:c.721G=	ENSP00000494363.1:p.Gly241=
ENST00000644704.2:c.721G=	ENSP00000495981.2:p.Gly241=
ENST00000698523.1:c.613G=	ENSP00000513772.1:p.Gly205=
ENST00000698527.1:c.721G=	ENSP00000513776.1:p.Gly241=
ENST00000698528.1:c.721G=	ENSP00000513777.1:p.Gly241=
ENST00000698529.1:n.843G=
ENST00000698530.1:n.843G=
ENST00000698531.1:n.843G=
ENST00000698532.1:c.652G=	ENSP00000513778.1:p.Gly218=
ENST00000698533.1:c.586G=	ENSP00000513779.1:p.Gly196=
ENST00000698534.1:c.721G=	ENSP00000513780.1:p.Gly241=
ENST00000698578.1:c.721G=	ENSP00000513807.1:p.Gly241=
ENST00000698579.1:c.721G=	ENSP00000513808.1:p.Gly241=
ENST00000698580.1:c.721G=	ENSP00000513809.1:p.Gly241=
ENST00000698581.1:c.721G=	ENSP00000513810.1:p.Gly241=
ENST00000698582.1:c.721G=	ENSP00000513811.1:p.Gly241=
ENST00000698583.1:c.721G=	ENSP00000513812.1:p.Gly241=
ENST00000698584.1:c.721G=	ENSP00000513813.1:p.Gly241=
ENST00000698585.1:c.721G=	ENSP00000513814.1:p.Gly241=
ENST00000698586.1:c.721G=	ENSP00000513815.1:p.Gly241=
ENST00000698587.1:c.757G=	ENSP00000513816.1:p.Gly253=
ENST00000698588.1:c.610G=	ENSP00000513817.1:p.Gly204=
ENST00000698589.1:n.2656G=
ENST00000698590.1:c.718G=	ENSP00000513818.1:p.Gly240=
ENST00000698591.1:c.688-32G=	ENSP00000513819.1:n.688-32G=
ENST00000698592.1:c.688-509G=	ENSP00000513820.1:n.688-509G=
ENST00000698593.1:c.721G=	ENSP00000513821.1:p.Gly241=
ENST00000698594.1:c.514G=	ENSP00000513822.1:p.Gly172=
ENST00000698595.1:c.721G=	ENSP00000513823.1:p.Gly241=
ENST00000698596.1:n.1941G=
ENST00000698597.1:c.625G=	ENSP00000513824.1:p.Gly209=
ENST00000698598.1:c.757G=	ENSP00000513825.1:p.Gly253=
ENST00000419023.3:c.649G=	ENSP00000400143.2:p.Gly217=
ENST00000477558.2:n.625G=
ENST00000491789.2:c.514G=	ENSP00000494741.1:p.Gly172=
ENST00000642919.1:c.*618G=	ENSP00000494763.1:n.*618G=
ENST00000643970.1:c.613G=	ENSP00000495148.1:p.Gly205=
ENST00000644510.2:c.721G= MANE Select	ENSP00000495563.1:p.Gly241=
ENST00000644526.1:c.721G=	ENSP00000494363.1:p.Gly241=
ENST00000644704.1:c.79G=	ENSP00000495981.1:p.Gly27=
ENST00000369128.9:c.406G=	ENSP00000358124.5:p.Gly136=
ENST00000369130.7:c.721G=	ENSP00000358126.3:p.Gly241=
ENST00000419023.2:c.514G=	ENSP00000400143.1:p.Gly172=
ENST00000462852.5:c.580-32G=	ENSP00000481356.1:n.580-32G=
ENST00000477558.1:n.623G=
ENST00000535106.5:c.406G=	ENSP00000440690.2:p.Gly136=
ENST00000611412.4:c.352G=	ENSP00000478403.1:p.Gly118=
NM_001279353.1:c.406G=	NP_001266282.1:p.Gly136=
NM_001279354.1:c.613G=	NP_001266283.1:p.Gly205=
NM_001279355.1:c.352G=	NP_001266284.1:p.Gly118=
NM_007259.4:c.721G=	NP_009190.2:p.Gly241=
NR_103998.1:n.704G=
XR_921733.1:n.836G=
XR_921734.1:n.836G=
XR_921735.1:n.836G=
NM_007259.5:c.721G= MANE Select	NP_009190.2:p.Gly241=
XM_024452791.1:c.613G=	XP_024308559.1:p.Gly205=
XR_921733.3:n.807G=
XR_921734.3:n.807G=
NM_001279353.2:c.406G=	NP_001266282.1:p.Gly136=
NM_001279354.2:c.613G=	NP_001266283.1:p.Gly205=
NR_103998.2:n.596G=