Canonical Allele Identifier: CA2479004724

Gene: VPS45

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.150081369C= , CM000663.2:g.150081369C=	GRCh38
NC_000001.10:g.150053451C= , CM000663.1:g.150053451C=	GRCh37
NC_000001.9:g.148320075C=	NCBI36
NG_033910.1:g.19077C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000419023.4:c.643C=	ENSP00000400143.3:p.Leu215=
ENST00000460366.6:n.847C=
ENST00000477558.3:n.1220C=
ENST00000497638.3:n.1498C=
ENST00000642919.2:c.*612C=	ENSP00000494763.1:n.*612C=
ENST00000643970.2:c.607C=	ENSP00000495148.1:p.Leu203=
ENST00000644526.2:c.715C=	ENSP00000494363.1:p.Leu239=
ENST00000644704.2:c.715C=	ENSP00000495981.2:p.Leu239=
ENST00000698523.1:c.607C=	ENSP00000513772.1:p.Leu203=
ENST00000698527.1:c.715C=	ENSP00000513776.1:p.Leu239=
ENST00000698528.1:c.715C=	ENSP00000513777.1:p.Leu239=
ENST00000698529.1:n.837C=
ENST00000698530.1:n.837C=
ENST00000698531.1:n.837C=
ENST00000698532.1:c.646C=	ENSP00000513778.1:p.Leu216=
ENST00000698533.1:c.580C=	ENSP00000513779.1:p.Leu194=
ENST00000698534.1:c.715C=	ENSP00000513780.1:p.Leu239=
ENST00000698578.1:c.715C=	ENSP00000513807.1:p.Leu239=
ENST00000698579.1:c.715C=	ENSP00000513808.1:p.Leu239=
ENST00000698580.1:c.715C=	ENSP00000513809.1:p.Leu239=
ENST00000698581.1:c.715C=	ENSP00000513810.1:p.Leu239=
ENST00000698582.1:c.715C=	ENSP00000513811.1:p.Leu239=
ENST00000698583.1:c.715C=	ENSP00000513812.1:p.Leu239=
ENST00000698584.1:c.715C=	ENSP00000513813.1:p.Leu239=
ENST00000698585.1:c.715C=	ENSP00000513814.1:p.Leu239=
ENST00000698586.1:c.715C=	ENSP00000513815.1:p.Leu239=
ENST00000698587.1:c.751C=	ENSP00000513816.1:p.Leu251=
ENST00000698588.1:c.604C=	ENSP00000513817.1:p.Leu202=
ENST00000698589.1:n.2650C=
ENST00000698590.1:c.712C=	ENSP00000513818.1:p.Leu238=
ENST00000698591.1:c.688-38C=	ENSP00000513819.1:n.688-38C=
ENST00000698592.1:c.688-515C=	ENSP00000513820.1:n.688-515C=
ENST00000698593.1:c.715C=	ENSP00000513821.1:p.Leu239=
ENST00000698594.1:c.508C=	ENSP00000513822.1:p.Leu170=
ENST00000698595.1:c.715C=	ENSP00000513823.1:p.Leu239=
ENST00000698596.1:n.1935C=
ENST00000698597.1:c.619C=	ENSP00000513824.1:p.Leu207=
ENST00000698598.1:c.751C=	ENSP00000513825.1:p.Leu251=
ENST00000419023.3:c.643C=	ENSP00000400143.2:p.Leu215=
ENST00000477558.2:n.619C=
ENST00000491789.2:c.508C=	ENSP00000494741.1:p.Leu170=
ENST00000642919.1:c.*612C=	ENSP00000494763.1:n.*612C=
ENST00000643970.1:c.607C=	ENSP00000495148.1:p.Leu203=
ENST00000644510.2:c.715C= MANE Select	ENSP00000495563.1:p.Leu239=
ENST00000644526.1:c.715C=	ENSP00000494363.1:p.Leu239=
ENST00000644704.1:c.73C=	ENSP00000495981.1:p.Leu25=
ENST00000369128.9:c.400C=	ENSP00000358124.5:p.Leu134=
ENST00000369130.7:c.715C=	ENSP00000358126.3:p.Leu239=
ENST00000419023.2:c.508C=	ENSP00000400143.1:p.Leu170=
ENST00000462852.5:c.580-38C=	ENSP00000481356.1:n.580-38C=
ENST00000477558.1:n.617C=
ENST00000535106.5:c.400C=	ENSP00000440690.2:p.Leu134=
ENST00000611412.4:c.346C=	ENSP00000478403.1:p.Leu116=
NM_001279353.1:c.400C=	NP_001266282.1:p.Leu134=
NM_001279354.1:c.607C=	NP_001266283.1:p.Leu203=
NM_001279355.1:c.346C=	NP_001266284.1:p.Leu116=
NM_007259.4:c.715C=	NP_009190.2:p.Leu239=
NR_103998.1:n.698C=
XR_921733.1:n.830C=
XR_921734.1:n.830C=
XR_921735.1:n.830C=
NM_007259.5:c.715C= MANE Select	NP_009190.2:p.Leu239=
XM_024452791.1:c.607C=	XP_024308559.1:p.Leu203=
XR_921733.3:n.801C=
XR_921734.3:n.801C=
NM_001279353.2:c.400C=	NP_001266282.1:p.Leu134=
NM_001279354.2:c.607C=	NP_001266283.1:p.Leu203=
NR_103998.2:n.590C=