Canonical Allele Identifier: CA115407
Gene: VPS33B HGNC NCBI

Linked Data

ClinVar Variation Id: 2203
ClinVar RCV Id: RCV000002287
dbSNP Id: rs121434385
MyVariant Identifiers: chr15:g.91565391A>G (hg19) chr15:g.91022161A>G (hg38)
PubMed: PMID:15052268 PMID:22753090
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.91022161A>G , CM000677.2:g.91022161A>G GRCh38
NC_000015.9:g.91565391A>G , CM000677.1:g.91565391A>G GRCh37
NC_000015.8:g.89366395A>G NCBI36
NG_012162.1:g.5443T>C , LRG_884:g.5443T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000333371.8:c.89T>C MANE Select ENSP00000327650.4:p.Leu30Pro
ENST00000643536.1:c.89T>C ENSP00000494429.1:p.Leu30Pro
ENST00000647331.1:c.89T>C ENSP00000493953.1:p.Leu30Pro
ENST00000333371.7:c.89T>C ENSP00000327650.3:p.Leu30Pro
ENST00000535906.1:c.89T>C ENSP00000444053.1:p.Leu30Pro
ENST00000556096.6:n.443T>C
ENST00000557358.1:n.436T>C
ENST00000574755.5:c.89T>C ENSP00000460413.1:p.Leu30Pro
NM_001289148.1:c.89T>C NP_001276077.1:p.Leu30Pro
NM_001289149.1:c.-123T>C NP_001276078.1:n.-123T>C
NM_018668.4:c.89T>C , LRG_884t1:c.89T>C NP_061138.3:p.Leu30Pro
XM_005254884.2:c.89T>C XP_005254941.1:p.Leu30Pro
XM_005254887.1:c.-42T>C XP_005254944.1:n.-42T>C
XM_005254888.2:c.89T>C XP_005254945.1:p.Leu30Pro
XM_011521448.1:c.-225T>C XP_011519750.1:n.-225T>C
XM_017022075.2:c.-273T>C XP_016877564.1:n.-273T>C
XM_017022076.1:c.-130T>C XP_016877565.1:n.-130T>C
XR_001751213.2:n.425T>C
NM_018668.5:c.89T>C MANE Select NP_061138.3:p.Leu30Pro
Search 100 bp 5'
Search 100 bp 3'