Canonical Allele Identifier: CA1073226

Gene: VPS45

Linked Data

• ClinVar Variation Id: 474246
• ClinVar RCV Id: RCV000540102
• dbSNP Id: rs587716374
• ExAC: 1:150053454 C / G
• gnomAD v2: 1-150053454-C-G
• gnomAD v3: 1-150081372-C-G
• gnomAD v4: 1-150081372-C-G
• MyVariant Identifiers: chr1:g.150053454C>G (hg19) ; chr1:g.150081372C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.150081372C>G , CM000663.2:g.150081372C>G	GRCh38
NC_000001.10:g.150053454C>G , CM000663.1:g.150053454C>G	GRCh37
NC_000001.9:g.148320078C>G	NCBI36
NG_033910.1:g.19080C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000419023.4:c.646C>G	ENSP00000400143.3:p.Leu216Val
ENST00000460366.6:n.850C>G
ENST00000477558.3:n.1223C>G
ENST00000497638.3:n.1501C>G
ENST00000642919.2:c.*615C>G	ENSP00000494763.1:n.*615C>G
ENST00000643970.2:c.610C>G	ENSP00000495148.1:p.Leu204Val
ENST00000644526.2:c.718C>G	ENSP00000494363.1:p.Leu240Val
ENST00000644704.2:c.718C>G	ENSP00000495981.2:p.Leu240Val
ENST00000698523.1:c.610C>G	ENSP00000513772.1:p.Leu204Val
ENST00000698527.1:c.718C>G	ENSP00000513776.1:p.Leu240Val
ENST00000698528.1:c.718C>G	ENSP00000513777.1:p.Leu240Val
ENST00000698529.1:n.840C>G
ENST00000698530.1:n.840C>G
ENST00000698531.1:n.840C>G
ENST00000698532.1:c.649C>G	ENSP00000513778.1:p.Leu217Val
ENST00000698533.1:c.583C>G	ENSP00000513779.1:p.Leu195Val
ENST00000698534.1:c.718C>G	ENSP00000513780.1:p.Leu240Val
ENST00000698578.1:c.718C>G	ENSP00000513807.1:p.Leu240Val
ENST00000698579.1:c.718C>G	ENSP00000513808.1:p.Leu240Val
ENST00000698580.1:c.718C>G	ENSP00000513809.1:p.Leu240Val
ENST00000698581.1:c.718C>G	ENSP00000513810.1:p.Leu240Val
ENST00000698582.1:c.718C>G	ENSP00000513811.1:p.Leu240Val
ENST00000698583.1:c.718C>G	ENSP00000513812.1:p.Leu240Val
ENST00000698584.1:c.718C>G	ENSP00000513813.1:p.Leu240Val
ENST00000698585.1:c.718C>G	ENSP00000513814.1:p.Leu240Val
ENST00000698586.1:c.718C>G	ENSP00000513815.1:p.Leu240Val
ENST00000698587.1:c.754C>G	ENSP00000513816.1:p.Leu252Val
ENST00000698588.1:c.607C>G	ENSP00000513817.1:p.Leu203Val
ENST00000698589.1:n.2653C>G
ENST00000698590.1:c.715C>G	ENSP00000513818.1:p.Leu239Val
ENST00000698591.1:c.688-35C>G	ENSP00000513819.1:n.688-35C>G
ENST00000698592.1:c.688-512C>G	ENSP00000513820.1:n.688-512C>G
ENST00000698593.1:c.718C>G	ENSP00000513821.1:p.Leu240Val
ENST00000698594.1:c.511C>G	ENSP00000513822.1:p.Leu171Val
ENST00000698595.1:c.718C>G	ENSP00000513823.1:p.Leu240Val
ENST00000698596.1:n.1938C>G
ENST00000698597.1:c.622C>G	ENSP00000513824.1:p.Leu208Val
ENST00000698598.1:c.754C>G	ENSP00000513825.1:p.Leu252Val
ENST00000419023.3:c.646C>G	ENSP00000400143.2:p.Leu216Val
ENST00000477558.2:n.622C>G
ENST00000491789.2:c.511C>G	ENSP00000494741.1:p.Leu171Val
ENST00000642919.1:c.*615C>G	ENSP00000494763.1:n.*615C>G
ENST00000643970.1:c.610C>G	ENSP00000495148.1:p.Leu204Val
ENST00000644510.2:c.718C>G MANE Select	ENSP00000495563.1:p.Leu240Val
ENST00000644526.1:c.718C>G	ENSP00000494363.1:p.Leu240Val
ENST00000644704.1:c.76C>G	ENSP00000495981.1:p.Leu26Val
ENST00000369128.9:c.403C>G	ENSP00000358124.5:p.Leu135Val
ENST00000369130.7:c.718C>G	ENSP00000358126.3:p.Leu240Val
ENST00000419023.2:c.511C>G	ENSP00000400143.1:p.Leu171Val
ENST00000462852.5:c.580-35C>G	ENSP00000481356.1:n.580-35C>G
ENST00000477558.1:n.620C>G
ENST00000535106.5:c.403C>G	ENSP00000440690.2:p.Leu135Val
ENST00000611412.4:c.349C>G	ENSP00000478403.1:p.Leu117Val
NM_001279353.1:c.403C>G	NP_001266282.1:p.Leu135Val
NM_001279354.1:c.610C>G	NP_001266283.1:p.Leu204Val
NM_001279355.1:c.349C>G	NP_001266284.1:p.Leu117Val
NM_007259.4:c.718C>G	NP_009190.2:p.Leu240Val
NR_103998.1:n.701C>G
XR_921733.1:n.833C>G
XR_921734.1:n.833C>G
XR_921735.1:n.833C>G
NM_007259.5:c.718C>G MANE Select	NP_009190.2:p.Leu240Val
XM_024452791.1:c.610C>G	XP_024308559.1:p.Leu204Val
XR_921733.3:n.804C>G
XR_921734.3:n.804C>G
NM_001279353.2:c.403C>G	NP_001266282.1:p.Leu135Val
NM_001279354.2:c.610C>G	NP_001266283.1:p.Leu204Val
NR_103998.2:n.593C>G