Canonical Allele Identifier: CA393860740
Gene: VPS33B HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.91014397C>G , CM000677.2:g.91014397C>G GRCh38
NC_000015.9:g.91557627C>G , CM000677.1:g.91557627C>G GRCh37
NC_000015.8:g.89358631C>G NCBI36
NG_012162.1:g.13207G>C , LRG_884:g.13207G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000333371.8:c.276G>C MANE Select ENSP00000327650.4:p.Met92Ile
ENST00000643536.1:c.276G>C ENSP00000494429.1:p.Met92Ile
ENST00000647331.1:c.276G>C ENSP00000493953.1:p.Met92Ile
ENST00000333371.7:c.276G>C ENSP00000327650.3:p.Met92Ile
ENST00000535906.1:c.195G>C ENSP00000444053.1:p.Met65Ile
ENST00000554264.5:n.199G>C
ENST00000556096.6:n.670G>C
ENST00000557358.1:n.480G>C
ENST00000574755.5:c.214G>C ENSP00000460413.1:p.Ala72Pro
NM_001289148.1:c.195G>C NP_001276077.1:p.Met65Ile
NM_001289149.1:c.3G>C NP_001276078.1:p.Met1Ile
NM_018668.4:c.276G>C , LRG_884t1:c.276G>C NP_061138.3:p.Met92Ile
XM_005254884.2:c.276G>C XP_005254941.1:p.Met92Ile
XM_005254887.1:c.3G>C XP_005254944.1:p.Met1Ile
XM_005254888.2:c.276G>C XP_005254945.1:p.Met92Ile
XM_011521448.1:c.3G>C XP_011519750.1:p.Met1Ile
XM_017022075.2:c.-86G>C XP_016877564.1:n.-86G>C
XM_017022076.1:c.-86G>C XP_016877565.1:n.-86G>C
XR_001751213.2:n.612G>C
NM_018668.5:c.276G>C MANE Select NP_061138.3:p.Met92Ile