Canonical Allele Identifier: CA393863713
Community Standard Title: NM_018668.5(VPS33B):c.84T>A (p.Tyr28Ter)
Gene: VPS33B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.91022166A>T , CM000677.2:g.91022166A>T GRCh38
NC_000015.9:g.91565396A>T , CM000677.1:g.91565396A>T GRCh37
NC_000015.8:g.89366400A>T NCBI36
NG_012162.1:g.5438T>A , LRG_884:g.5438T>A

Transcript Alleles

HGVS Amino-acid Change
NM_018668.5:c.84T>A MANE Select NP_061138.3:p.Tyr28Ter
ENST00000333371.8:c.84T>A MANE Select ENSP00000327650.4:p.Tyr28Ter
NM_001289148.1:c.84T>A NP_001276077.1:p.Tyr28Ter
NM_001289149.1:c.-128T>A NP_001276078.1:n.-128T>A
NM_018668.4:c.84T>A , LRG_884t1:c.84T>A NP_061138.3:p.Tyr28Ter
ENST00000333371.7:c.84T>A ENSP00000327650.3:p.Tyr28Ter
ENST00000535906.1:c.84T>A ENSP00000444053.1:p.Tyr28Ter
ENST00000556096.6:n.438T>A
ENST00000557358.1:n.431T>A
ENST00000574755.5:c.84T>A ENSP00000460413.1:p.Tyr28Ter
ENST00000643536.1:c.84T>A ENSP00000494429.1:p.Tyr28Ter
ENST00000647331.1:c.84T>A ENSP00000493953.1:p.Tyr28Ter
XM_005254884.2:c.84T>A XP_005254941.1:p.Tyr28Ter
XM_005254887.1:c.-47T>A XP_005254944.1:n.-47T>A
XM_005254888.2:c.84T>A XP_005254945.1:p.Tyr28Ter
XM_011521448.1:c.-230T>A XP_011519750.1:n.-230T>A
XM_017022075.2:c.-278T>A XP_016877564.1:n.-278T>A
XM_017022076.1:c.-135T>A XP_016877565.1:n.-135T>A
XR_001751213.2:n.420T>A