Canonical Allele Identifier: CA393886410
Gene: VPS33B HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.91002053C>G , CM000677.2:g.91002053C>G GRCh38
NC_000015.9:g.91545283C>G , CM000677.1:g.91545283C>G GRCh37
NC_000015.8:g.89346287C>G NCBI36
NG_012162.1:g.25551G>C , LRG_884:g.25551G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000333371.8:c.1402G>C MANE Select ENSP00000327650.4:p.Ala468Pro
ENST00000643536.1:c.1402G>C ENSP00000494429.1:p.Ala468Pro
ENST00000647331.1:c.1402G>C ENSP00000493953.1:p.Ala468Pro
ENST00000333371.7:c.1402G>C ENSP00000327650.3:p.Ala468Pro
ENST00000535906.1:c.1321G>C ENSP00000444053.1:p.Ala441Pro
ENST00000574755.5:c.*1097G>C ENSP00000460413.1:n.*1097G>C
NM_001289148.1:c.1321G>C NP_001276077.1:p.Ala441Pro
NM_001289149.1:c.1129G>C NP_001276078.1:p.Ala377Pro
NM_018668.4:c.1402G>C , LRG_884t1:c.1402G>C NP_061138.3:p.Ala468Pro
XM_005254884.2:c.1324G>C XP_005254941.1:p.Ala442Pro
XM_005254887.1:c.1129G>C XP_005254944.1:p.Ala377Pro
XM_011521448.1:c.1129G>C XP_011519750.1:p.Ala377Pro
XM_011521449.1:c.1078G>C XP_011519751.1:p.Ala360Pro
XM_011521449.2:c.1078G>C XP_011519751.1:p.Ala360Pro
XM_017022075.2:c.1057G>C XP_016877564.1:p.Ala353Pro
XM_017022076.1:c.1057G>C XP_016877565.1:p.Ala353Pro
XR_001751213.2:n.1900G>C
NM_018668.5:c.1402G>C MANE Select NP_061138.3:p.Ala468Pro