Canonical Allele Identifier: CA393886434
Gene: VPS33B HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.91002064G>C , CM000677.2:g.91002064G>C GRCh38
NC_000015.9:g.91545294G>C , CM000677.1:g.91545294G>C GRCh37
NC_000015.8:g.89346298G>C NCBI36
NG_012162.1:g.25540C>G , LRG_884:g.25540C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000333371.8:c.1391C>G MANE Select ENSP00000327650.4:p.Thr464Ser
ENST00000643536.1:c.1391C>G ENSP00000494429.1:p.Thr464Ser
ENST00000647331.1:c.1391C>G ENSP00000493953.1:p.Thr464Ser
ENST00000333371.7:c.1391C>G ENSP00000327650.3:p.Thr464Ser
ENST00000535906.1:c.1310C>G ENSP00000444053.1:p.Thr437Ser
ENST00000574755.5:c.*1086C>G ENSP00000460413.1:n.*1086C>G
NM_001289148.1:c.1310C>G NP_001276077.1:p.Thr437Ser
NM_001289149.1:c.1118C>G NP_001276078.1:p.Thr373Ser
NM_018668.4:c.1391C>G , LRG_884t1:c.1391C>G NP_061138.3:p.Thr464Ser
XM_005254884.2:c.1313C>G XP_005254941.1:p.Thr438Ser
XM_005254887.1:c.1118C>G XP_005254944.1:p.Thr373Ser
XM_011521448.1:c.1118C>G XP_011519750.1:p.Thr373Ser
XM_011521449.1:c.1067C>G XP_011519751.1:p.Thr356Ser
XM_011521449.2:c.1067C>G XP_011519751.1:p.Thr356Ser
XM_017022075.2:c.1046C>G XP_016877564.1:p.Thr349Ser
XM_017022076.1:c.1046C>G XP_016877565.1:p.Thr349Ser
XR_001751213.2:n.1889C>G
NM_018668.5:c.1391C>G MANE Select NP_061138.3:p.Thr464Ser