Canonical Allele Identifier: CA342250462

Gene: VPS45

Linked Data

• MyVariant Identifiers: chr1:g.150053455T>C (hg19) ; chr1:g.150081373T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.150081373T>C , CM000663.2:g.150081373T>C	GRCh38
NC_000001.10:g.150053455T>C , CM000663.1:g.150053455T>C	GRCh37
NC_000001.9:g.148320079T>C	NCBI36
NG_033910.1:g.19081T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000419023.4:c.647T>C	ENSP00000400143.3:p.Leu216Pro
ENST00000460366.6:n.851T>C
ENST00000477558.3:n.1224T>C
ENST00000497638.3:n.1502T>C
ENST00000642919.2:c.*616T>C	ENSP00000494763.1:n.*616T>C
ENST00000643970.2:c.611T>C	ENSP00000495148.1:p.Leu204Pro
ENST00000644526.2:c.719T>C	ENSP00000494363.1:p.Leu240Pro
ENST00000644704.2:c.719T>C	ENSP00000495981.2:p.Leu240Pro
ENST00000698523.1:c.611T>C	ENSP00000513772.1:p.Leu204Pro
ENST00000698527.1:c.719T>C	ENSP00000513776.1:p.Leu240Pro
ENST00000698528.1:c.719T>C	ENSP00000513777.1:p.Leu240Pro
ENST00000698529.1:n.841T>C
ENST00000698530.1:n.841T>C
ENST00000698531.1:n.841T>C
ENST00000698532.1:c.650T>C	ENSP00000513778.1:p.Leu217Pro
ENST00000698533.1:c.584T>C	ENSP00000513779.1:p.Leu195Pro
ENST00000698534.1:c.719T>C	ENSP00000513780.1:p.Leu240Pro
ENST00000698578.1:c.719T>C	ENSP00000513807.1:p.Leu240Pro
ENST00000698579.1:c.719T>C	ENSP00000513808.1:p.Leu240Pro
ENST00000698580.1:c.719T>C	ENSP00000513809.1:p.Leu240Pro
ENST00000698581.1:c.719T>C	ENSP00000513810.1:p.Leu240Pro
ENST00000698582.1:c.719T>C	ENSP00000513811.1:p.Leu240Pro
ENST00000698583.1:c.719T>C	ENSP00000513812.1:p.Leu240Pro
ENST00000698584.1:c.719T>C	ENSP00000513813.1:p.Leu240Pro
ENST00000698585.1:c.719T>C	ENSP00000513814.1:p.Leu240Pro
ENST00000698586.1:c.719T>C	ENSP00000513815.1:p.Leu240Pro
ENST00000698587.1:c.755T>C	ENSP00000513816.1:p.Leu252Pro
ENST00000698588.1:c.608T>C	ENSP00000513817.1:p.Leu203Pro
ENST00000698589.1:n.2654T>C
ENST00000698590.1:c.716T>C	ENSP00000513818.1:p.Leu239Pro
ENST00000698591.1:c.688-34T>C	ENSP00000513819.1:n.688-34T>C
ENST00000698592.1:c.688-511T>C	ENSP00000513820.1:n.688-511T>C
ENST00000698593.1:c.719T>C	ENSP00000513821.1:p.Leu240Pro
ENST00000698594.1:c.512T>C	ENSP00000513822.1:p.Leu171Pro
ENST00000698595.1:c.719T>C	ENSP00000513823.1:p.Leu240Pro
ENST00000698596.1:n.1939T>C
ENST00000698597.1:c.623T>C	ENSP00000513824.1:p.Leu208Pro
ENST00000698598.1:c.755T>C	ENSP00000513825.1:p.Leu252Pro
ENST00000419023.3:c.647T>C	ENSP00000400143.2:p.Leu216Pro
ENST00000477558.2:n.623T>C
ENST00000491789.2:c.512T>C	ENSP00000494741.1:p.Leu171Pro
ENST00000642919.1:c.*616T>C	ENSP00000494763.1:n.*616T>C
ENST00000643970.1:c.611T>C	ENSP00000495148.1:p.Leu204Pro
ENST00000644510.2:c.719T>C MANE Select	ENSP00000495563.1:p.Leu240Pro
ENST00000644526.1:c.719T>C	ENSP00000494363.1:p.Leu240Pro
ENST00000644704.1:c.77T>C	ENSP00000495981.1:p.Leu26Pro
ENST00000369128.9:c.404T>C	ENSP00000358124.5:p.Leu135Pro
ENST00000369130.7:c.719T>C	ENSP00000358126.3:p.Leu240Pro
ENST00000419023.2:c.512T>C	ENSP00000400143.1:p.Leu171Pro
ENST00000462852.5:c.580-34T>C	ENSP00000481356.1:n.580-34T>C
ENST00000477558.1:n.621T>C
ENST00000535106.5:c.404T>C	ENSP00000440690.2:p.Leu135Pro
ENST00000611412.4:c.350T>C	ENSP00000478403.1:p.Leu117Pro
NM_001279353.1:c.404T>C	NP_001266282.1:p.Leu135Pro
NM_001279354.1:c.611T>C	NP_001266283.1:p.Leu204Pro
NM_001279355.1:c.350T>C	NP_001266284.1:p.Leu117Pro
NM_007259.4:c.719T>C	NP_009190.2:p.Leu240Pro
NR_103998.1:n.702T>C
XR_921733.1:n.834T>C
XR_921734.1:n.834T>C
XR_921735.1:n.834T>C
NM_007259.5:c.719T>C MANE Select	NP_009190.2:p.Leu240Pro
XM_024452791.1:c.611T>C	XP_024308559.1:p.Leu204Pro
XR_921733.3:n.805T>C
XR_921734.3:n.805T>C
NM_001279353.2:c.404T>C	NP_001266282.1:p.Leu135Pro
NM_001279354.2:c.611T>C	NP_001266283.1:p.Leu204Pro
NR_103998.2:n.594T>C