Canonical Allele Identifier: CA393860819
Gene: VPS33B HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.91014432A>C , CM000677.2:g.91014432A>C GRCh38
NC_000015.9:g.91557662A>C , CM000677.1:g.91557662A>C GRCh37
NC_000015.8:g.89358666A>C NCBI36
NG_012162.1:g.13172T>G , LRG_884:g.13172T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000333371.8:c.241T>G MANE Select ENSP00000327650.4:p.Leu81Val
ENST00000643536.1:c.241T>G ENSP00000494429.1:p.Leu81Val
ENST00000647331.1:c.241T>G ENSP00000493953.1:p.Leu81Val
ENST00000333371.7:c.241T>G ENSP00000327650.3:p.Leu81Val
ENST00000535906.1:c.160T>G ENSP00000444053.1:p.Leu54Val
ENST00000554264.5:n.164T>G
ENST00000556096.6:n.635T>G
ENST00000557358.1:n.445T>G
ENST00000574755.5:c.179T>G ENSP00000460413.1:p.Ile60Ser
NM_001289148.1:c.160T>G NP_001276077.1:p.Leu54Val
NM_001289149.1:c.-33T>G NP_001276078.1:n.-33T>G
NM_018668.4:c.241T>G , LRG_884t1:c.241T>G NP_061138.3:p.Leu81Val
XM_005254884.2:c.241T>G XP_005254941.1:p.Leu81Val
XM_005254887.1:c.-33T>G XP_005254944.1:n.-33T>G
XM_005254888.2:c.241T>G XP_005254945.1:p.Leu81Val
XM_011521448.1:c.-33T>G XP_011519750.1:n.-33T>G
XM_017022075.2:c.-121T>G XP_016877564.1:n.-121T>G
XM_017022076.1:c.-121T>G XP_016877565.1:n.-121T>G
XR_001751213.2:n.577T>G
NM_018668.5:c.241T>G MANE Select NP_061138.3:p.Leu81Val