Canonical Allele Identifier: CA420661732

Gene: VPS45

Linked Data

• MyVariant Identifiers: chr1:g.150053456A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.150081374A>T , CM000663.2:g.150081374A>T	GRCh38
NC_000001.10:g.150053456A>T , CM000663.1:g.150053456A>T	GRCh37
NC_000001.9:g.148320080A>T	NCBI36
NG_033910.1:g.19082A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000419023.4:c.648A>T	ENSP00000400143.3:p.Leu216=
ENST00000460366.6:n.852A>T
ENST00000477558.3:n.1225A>T
ENST00000497638.3:n.1503A>T
ENST00000642919.2:c.*617A>T	ENSP00000494763.1:n.*617A>T
ENST00000643970.2:c.612A>T	ENSP00000495148.1:p.Leu204=
ENST00000644526.2:c.720A>T	ENSP00000494363.1:p.Leu240=
ENST00000644704.2:c.720A>T	ENSP00000495981.2:p.Leu240=
ENST00000698523.1:c.612A>T	ENSP00000513772.1:p.Leu204=
ENST00000698527.1:c.720A>T	ENSP00000513776.1:p.Leu240=
ENST00000698528.1:c.720A>T	ENSP00000513777.1:p.Leu240=
ENST00000698529.1:n.842A>T
ENST00000698530.1:n.842A>T
ENST00000698531.1:n.842A>T
ENST00000698532.1:c.651A>T	ENSP00000513778.1:p.Leu217=
ENST00000698533.1:c.585A>T	ENSP00000513779.1:p.Leu195=
ENST00000698534.1:c.720A>T	ENSP00000513780.1:p.Leu240=
ENST00000698578.1:c.720A>T	ENSP00000513807.1:p.Leu240=
ENST00000698579.1:c.720A>T	ENSP00000513808.1:p.Leu240=
ENST00000698580.1:c.720A>T	ENSP00000513809.1:p.Leu240=
ENST00000698581.1:c.720A>T	ENSP00000513810.1:p.Leu240=
ENST00000698582.1:c.720A>T	ENSP00000513811.1:p.Leu240=
ENST00000698583.1:c.720A>T	ENSP00000513812.1:p.Leu240=
ENST00000698584.1:c.720A>T	ENSP00000513813.1:p.Leu240=
ENST00000698585.1:c.720A>T	ENSP00000513814.1:p.Leu240=
ENST00000698586.1:c.720A>T	ENSP00000513815.1:p.Leu240=
ENST00000698587.1:c.756A>T	ENSP00000513816.1:p.Leu252=
ENST00000698588.1:c.609A>T	ENSP00000513817.1:p.Leu203=
ENST00000698589.1:n.2655A>T
ENST00000698590.1:c.717A>T	ENSP00000513818.1:p.Leu239=
ENST00000698591.1:c.688-33A>T	ENSP00000513819.1:n.688-33A>T
ENST00000698592.1:c.688-510A>T	ENSP00000513820.1:n.688-510A>T
ENST00000698593.1:c.720A>T	ENSP00000513821.1:p.Leu240=
ENST00000698594.1:c.513A>T	ENSP00000513822.1:p.Leu171=
ENST00000698595.1:c.720A>T	ENSP00000513823.1:p.Leu240=
ENST00000698596.1:n.1940A>T
ENST00000698597.1:c.624A>T	ENSP00000513824.1:p.Leu208=
ENST00000698598.1:c.756A>T	ENSP00000513825.1:p.Leu252=
ENST00000419023.3:c.648A>T	ENSP00000400143.2:p.Leu216=
ENST00000477558.2:n.624A>T
ENST00000491789.2:c.513A>T	ENSP00000494741.1:p.Leu171=
ENST00000642919.1:c.*617A>T	ENSP00000494763.1:n.*617A>T
ENST00000643970.1:c.612A>T	ENSP00000495148.1:p.Leu204=
ENST00000644510.2:c.720A>T MANE Select	ENSP00000495563.1:p.Leu240=
ENST00000644526.1:c.720A>T	ENSP00000494363.1:p.Leu240=
ENST00000644704.1:c.78A>T	ENSP00000495981.1:p.Leu26=
ENST00000369128.9:c.405A>T	ENSP00000358124.5:p.Leu135=
ENST00000369130.7:c.720A>T	ENSP00000358126.3:p.Leu240=
ENST00000419023.2:c.513A>T	ENSP00000400143.1:p.Leu171=
ENST00000462852.5:c.580-33A>T	ENSP00000481356.1:n.580-33A>T
ENST00000477558.1:n.622A>T
ENST00000535106.5:c.405A>T	ENSP00000440690.2:p.Leu135=
ENST00000611412.4:c.351A>T	ENSP00000478403.1:p.Leu117=
NM_001279353.1:c.405A>T	NP_001266282.1:p.Leu135=
NM_001279354.1:c.612A>T	NP_001266283.1:p.Leu204=
NM_001279355.1:c.351A>T	NP_001266284.1:p.Leu117=
NM_007259.4:c.720A>T	NP_009190.2:p.Leu240=
NR_103998.1:n.703A>T
XR_921733.1:n.835A>T
XR_921734.1:n.835A>T
XR_921735.1:n.835A>T
NM_007259.5:c.720A>T MANE Select	NP_009190.2:p.Leu240=
XM_024452791.1:c.612A>T	XP_024308559.1:p.Leu204=
XR_921733.3:n.806A>T
XR_921734.3:n.806A>T
NM_001279353.2:c.405A>T	NP_001266282.1:p.Leu135=
NM_001279354.2:c.612A>T	NP_001266283.1:p.Leu204=
NR_103998.2:n.595A>T