Canonical Allele Identifier: CA115409
Gene: VPS33B HGNC NCBI

Linked Data

ClinVar Variation Id: 2204
ClinVar RCV Id: RCV000002288
dbSNP Id: rs794726658
MyVariant Identifiers: chr15:g.91550179C>T (hg19) chr15:g.91006949C>T (hg38)
PubMed: PMID:17994566
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.91006949C>T , CM000677.2:g.91006949C>T GRCh38
NC_000015.9:g.91550179C>T , CM000677.1:g.91550179C>T GRCh37
NC_000015.8:g.89351183C>T NCBI36
NG_012162.1:g.20655G>A , LRG_884:g.20655G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000333371.8:c.700+1G>A MANE Select ENSP00000327650.4:n.700+1G>A
ENST00000643536.1:c.700+1G>A ENSP00000494429.1:n.700+1G>A
ENST00000647331.1:c.700+1G>A ENSP00000493953.1:n.700+1G>A
ENST00000333371.7:c.700+1G>A ENSP00000327650.3:n.700+1G>A
ENST00000535906.1:c.619+1G>A ENSP00000444053.1:n.619+1G>A
ENST00000556096.6:n.1095G>A
ENST00000574755.5:c.*395+1G>A ENSP00000460413.1:n.*395+1G>A
NM_001289148.1:c.619+1G>A NP_001276077.1:n.619+1G>A
NM_001289149.1:c.427+1G>A NP_001276078.1:n.427+1G>A
NM_018668.4:c.700+1G>A , LRG_884t1:c.700+1G>A NP_061138.3:n.700+1G>A
XM_005254884.2:c.700+1G>A XP_005254941.1:n.700+1G>A
XM_005254887.1:c.427+1G>A XP_005254944.1:n.427+1G>A
XM_005254888.2:c.700+1G>A XP_005254945.1:n.700+1G>A
XM_011521448.1:c.427+1G>A XP_011519750.1:n.427+1G>A
XM_011521449.1:c.376+1G>A XP_011519751.1:n.376+1G>A
XM_011521449.2:c.376+1G>A XP_011519751.1:n.376+1G>A
XM_017022075.2:c.355+1G>A XP_016877564.1:n.355+1G>A
XM_017022076.1:c.355+1G>A XP_016877565.1:n.355+1G>A
XR_001751213.2:n.1036+1G>A
NM_018668.5:c.700+1G>A MANE Select NP_061138.3:n.700+1G>A
Search 100 bp 5'
Search 100 bp 3'