Canonical Allele Identifier: CA342250542

Gene: VPS45

Linked Data

• MyVariant Identifiers: chr1:g.150053493C>A (hg19) ; chr1:g.150081411C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.150081411C>A , CM000663.2:g.150081411C>A	GRCh38
NC_000001.10:g.150053493C>A , CM000663.1:g.150053493C>A	GRCh37
NC_000001.9:g.148320117C>A	NCBI36
NG_033910.1:g.19119C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000419023.4:c.685C>A	ENSP00000400143.3:p.Pro229Thr
ENST00000460366.6:n.889C>A
ENST00000477558.3:n.1262C>A
ENST00000497638.3:n.1540C>A
ENST00000642919.2:c.*654C>A	ENSP00000494763.1:n.*654C>A
ENST00000643970.2:c.649C>A	ENSP00000495148.1:p.Pro217Thr
ENST00000644526.2:c.757C>A	ENSP00000494363.1:p.Pro253Thr
ENST00000644704.2:c.757C>A	ENSP00000495981.2:p.Pro253Thr
ENST00000698523.1:c.649C>A	ENSP00000513772.1:p.Pro217Thr
ENST00000698527.1:c.757C>A	ENSP00000513776.1:p.Pro253Thr
ENST00000698528.1:c.757C>A	ENSP00000513777.1:p.Pro253Thr
ENST00000698529.1:n.879C>A
ENST00000698530.1:n.879C>A
ENST00000698531.1:n.879C>A
ENST00000698532.1:c.688C>A	ENSP00000513778.1:p.Pro230Thr
ENST00000698533.1:c.622C>A	ENSP00000513779.1:p.Pro208Thr
ENST00000698534.1:c.757C>A	ENSP00000513780.1:p.Pro253Thr
ENST00000698578.1:c.757C>A	ENSP00000513807.1:p.Pro253Thr
ENST00000698579.1:c.757C>A	ENSP00000513808.1:p.Pro253Thr
ENST00000698580.1:c.757C>A	ENSP00000513809.1:p.Pro253Thr
ENST00000698581.1:c.757C>A	ENSP00000513810.1:p.Pro253Thr
ENST00000698582.1:c.757C>A	ENSP00000513811.1:p.Pro253Thr
ENST00000698583.1:c.757C>A	ENSP00000513812.1:p.Pro253Thr
ENST00000698584.1:c.757C>A	ENSP00000513813.1:p.Pro253Thr
ENST00000698585.1:c.757C>A	ENSP00000513814.1:p.Pro253Thr
ENST00000698586.1:c.757C>A	ENSP00000513815.1:p.Pro253Thr
ENST00000698587.1:c.793C>A	ENSP00000513816.1:p.Pro265Thr
ENST00000698588.1:c.646C>A	ENSP00000513817.1:p.Pro216Thr
ENST00000698589.1:n.2692C>A
ENST00000698590.1:c.754C>A	ENSP00000513818.1:p.Pro252Thr
ENST00000698591.1:c.692C>A	ENSP00000513819.1:p.Ala231Asp
ENST00000698592.1:c.688-473C>A	ENSP00000513820.1:n.688-473C>A
ENST00000698593.1:c.757C>A	ENSP00000513821.1:p.Pro253Thr
ENST00000698594.1:c.550C>A	ENSP00000513822.1:p.Pro184Thr
ENST00000698595.1:c.757C>A	ENSP00000513823.1:p.Pro253Thr
ENST00000698596.1:n.1977C>A
ENST00000698597.1:c.661C>A	ENSP00000513824.1:p.Pro221Thr
ENST00000698598.1:c.793C>A	ENSP00000513825.1:p.Pro265Thr
ENST00000419023.3:c.685C>A	ENSP00000400143.2:p.Pro229Thr
ENST00000477558.2:n.661C>A
ENST00000491789.2:c.550C>A	ENSP00000494741.1:p.Pro184Thr
ENST00000642919.1:c.*654C>A	ENSP00000494763.1:n.*654C>A
ENST00000643970.1:c.649C>A	ENSP00000495148.1:p.Pro217Thr
ENST00000644510.2:c.757C>A MANE Select	ENSP00000495563.1:p.Pro253Thr
ENST00000644526.1:c.757C>A	ENSP00000494363.1:p.Pro253Thr
ENST00000644704.1:c.115C>A	ENSP00000495981.1:p.Pro39Thr
ENST00000369128.9:c.442C>A	ENSP00000358124.5:p.Pro148Thr
ENST00000369130.7:c.757C>A	ENSP00000358126.3:p.Pro253Thr
ENST00000419023.2:c.550C>A	ENSP00000400143.1:p.Pro184Thr
ENST00000462852.5:c.584C>A	ENSP00000481356.1:p.Ala195Asp
ENST00000477558.1:n.659C>A
ENST00000535106.5:c.442C>A	ENSP00000440690.2:p.Pro148Thr
ENST00000611412.4:c.388C>A	ENSP00000478403.1:p.Pro130Thr
NM_001279353.1:c.442C>A	NP_001266282.1:p.Pro148Thr
NM_001279354.1:c.649C>A	NP_001266283.1:p.Pro217Thr
NM_001279355.1:c.388C>A	NP_001266284.1:p.Pro130Thr
NM_007259.4:c.757C>A	NP_009190.2:p.Pro253Thr
NR_103998.1:n.740C>A
XR_921733.1:n.872C>A
XR_921734.1:n.872C>A
XR_921735.1:n.872C>A
NM_007259.5:c.757C>A MANE Select	NP_009190.2:p.Pro253Thr
XM_024452791.1:c.649C>A	XP_024308559.1:p.Pro217Thr
XR_921733.3:n.843C>A
XR_921734.3:n.843C>A
NM_001279353.2:c.442C>A	NP_001266282.1:p.Pro148Thr
NM_001279354.2:c.649C>A	NP_001266283.1:p.Pro217Thr
NR_103998.2:n.632C>A