Canonical Allele Identifier: CA492173220
Gene: VPS33B HGNC NCBI

Linked Data

MyVariant Identifiers: chr15:g.91557663T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.91014433T>C , CM000677.2:g.91014433T>C GRCh38
NC_000015.9:g.91557663T>C , CM000677.1:g.91557663T>C GRCh37
NC_000015.8:g.89358667T>C NCBI36
NG_012162.1:g.13171A>G , LRG_884:g.13171A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000333371.8:c.240A>G MANE Select ENSP00000327650.4:p.Gln80=
ENST00000643536.1:c.240A>G ENSP00000494429.1:p.Gln80=
ENST00000647331.1:c.240A>G ENSP00000493953.1:p.Gln80=
ENST00000333371.7:c.240A>G ENSP00000327650.3:p.Gln80=
ENST00000535906.1:c.159A>G ENSP00000444053.1:p.Gln53=
ENST00000554264.5:n.163A>G
ENST00000556096.6:n.634A>G
ENST00000557358.1:n.444A>G
ENST00000574755.5:c.178A>G ENSP00000460413.1:p.Ile60Val
NM_001289148.1:c.159A>G NP_001276077.1:p.Gln53=
NM_001289149.1:c.-34A>G NP_001276078.1:n.-34A>G
NM_018668.4:c.240A>G , LRG_884t1:c.240A>G NP_061138.3:p.Gln80=
XM_005254884.2:c.240A>G XP_005254941.1:p.Gln80=
XM_005254887.1:c.-34A>G XP_005254944.1:n.-34A>G
XM_005254888.2:c.240A>G XP_005254945.1:p.Gln80=
XM_011521448.1:c.-34A>G XP_011519750.1:n.-34A>G
XM_017022075.2:c.-122A>G XP_016877564.1:n.-122A>G
XM_017022076.1:c.-122A>G XP_016877565.1:n.-122A>G
XR_001751213.2:n.576A>G
NM_018668.5:c.240A>G MANE Select NP_061138.3:p.Gln80=