Canonical Allele Identifier: CA342250611

Gene: VPS45

Linked Data

• gnomAD v4: 1-150081441-G-C
• MyVariant Identifiers: chr1:g.150053523G>C (hg19) ; chr1:g.150081441G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.150081441G>C , CM000663.2:g.150081441G>C	GRCh38
NC_000001.10:g.150053523G>C , CM000663.1:g.150053523G>C	GRCh37
NC_000001.9:g.148320147G>C	NCBI36
NG_033910.1:g.19149G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000419023.4:c.715G>C	ENSP00000400143.3:p.Val239Leu
ENST00000460366.6:n.919G>C
ENST00000477558.3:n.1292G>C
ENST00000497638.3:n.1570G>C
ENST00000642919.2:c.*684G>C	ENSP00000494763.1:n.*684G>C
ENST00000643970.2:c.679G>C	ENSP00000495148.1:p.Val227Leu
ENST00000644526.2:c.787G>C	ENSP00000494363.1:p.Val263Leu
ENST00000644704.2:c.787G>C	ENSP00000495981.2:p.Val263Leu
ENST00000698523.1:c.679G>C	ENSP00000513772.1:p.Val227Leu
ENST00000698527.1:c.787G>C	ENSP00000513776.1:p.Val263Leu
ENST00000698528.1:c.787G>C	ENSP00000513777.1:p.Val263Leu
ENST00000698529.1:n.909G>C
ENST00000698530.1:n.909G>C
ENST00000698531.1:n.909G>C
ENST00000698532.1:c.718G>C	ENSP00000513778.1:p.Val240Leu
ENST00000698533.1:c.652G>C	ENSP00000513779.1:p.Val218Leu
ENST00000698534.1:c.787G>C	ENSP00000513780.1:p.Val263Leu
ENST00000698578.1:c.787G>C	ENSP00000513807.1:p.Val263Leu
ENST00000698579.1:c.787G>C	ENSP00000513808.1:p.Val263Leu
ENST00000698580.1:c.787G>C	ENSP00000513809.1:p.Val263Leu
ENST00000698581.1:c.787G>C	ENSP00000513810.1:p.Val263Leu
ENST00000698582.1:c.787G>C	ENSP00000513811.1:p.Val263Leu
ENST00000698583.1:c.787G>C	ENSP00000513812.1:p.Val263Leu
ENST00000698584.1:c.787G>C	ENSP00000513813.1:p.Val263Leu
ENST00000698585.1:c.787G>C	ENSP00000513814.1:p.Val263Leu
ENST00000698586.1:c.787G>C	ENSP00000513815.1:p.Val263Leu
ENST00000698587.1:c.823G>C	ENSP00000513816.1:p.Val275Leu
ENST00000698588.1:c.676G>C	ENSP00000513817.1:p.Val226Leu
ENST00000698589.1:n.2722G>C
ENST00000698590.1:c.784G>C	ENSP00000513818.1:p.Val262Leu
ENST00000698591.1:c.*17G>C	ENSP00000513819.1:n.*17G>C
ENST00000698592.1:c.688-443G>C	ENSP00000513820.1:n.688-443G>C
ENST00000698593.1:c.787G>C	ENSP00000513821.1:p.Val263Leu
ENST00000698594.1:c.580G>C	ENSP00000513822.1:p.Val194Leu
ENST00000698595.1:c.787G>C	ENSP00000513823.1:p.Val263Leu
ENST00000698596.1:n.2007G>C
ENST00000698597.1:c.691G>C	ENSP00000513824.1:p.Val231Leu
ENST00000698598.1:c.823G>C	ENSP00000513825.1:p.Val275Leu
ENST00000419023.3:c.715G>C	ENSP00000400143.2:p.Val239Leu
ENST00000477558.2:n.691G>C
ENST00000491789.2:c.580G>C	ENSP00000494741.1:p.Val194Leu
ENST00000642919.1:c.*684G>C	ENSP00000494763.1:n.*684G>C
ENST00000643970.1:c.679G>C	ENSP00000495148.1:p.Val227Leu
ENST00000644510.2:c.787G>C MANE Select	ENSP00000495563.1:p.Val263Leu
ENST00000644526.1:c.787G>C	ENSP00000494363.1:p.Val263Leu
ENST00000644704.1:c.145G>C	ENSP00000495981.1:p.Val49Leu
ENST00000369128.9:c.472G>C	ENSP00000358124.5:p.Val158Leu
ENST00000369130.7:c.787G>C	ENSP00000358126.3:p.Val263Leu
ENST00000419023.2:c.580G>C	ENSP00000400143.1:p.Val194Leu
ENST00000462852.5:c.*17G>C	ENSP00000481356.1:n.*17G>C
ENST00000477558.1:n.689G>C
ENST00000535106.5:c.472G>C	ENSP00000440690.2:p.Val158Leu
ENST00000611412.4:c.418G>C	ENSP00000478403.1:p.Val140Leu
NM_001279353.1:c.472G>C	NP_001266282.1:p.Val158Leu
NM_001279354.1:c.679G>C	NP_001266283.1:p.Val227Leu
NM_001279355.1:c.418G>C	NP_001266284.1:p.Val140Leu
NM_007259.4:c.787G>C	NP_009190.2:p.Val263Leu
NR_103998.1:n.770G>C
XR_921733.1:n.902G>C
XR_921734.1:n.902G>C
XR_921735.1:n.902G>C
NM_007259.5:c.787G>C MANE Select	NP_009190.2:p.Val263Leu
XM_024452791.1:c.679G>C	XP_024308559.1:p.Val227Leu
XR_921733.3:n.873G>C
XR_921734.3:n.873G>C
NM_001279353.2:c.472G>C	NP_001266282.1:p.Val158Leu
NM_001279354.2:c.679G>C	NP_001266283.1:p.Val227Leu
NR_103998.2:n.662G>C