Canonical Allele Identifier: CA393860822

Gene: VPS33B

Linked Data

• MyVariant Identifiers: chr15:g.91557663T>G (hg19) ; chr15:g.91014433T>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000333371.8:c.240A>C MANE Select	ENSP00000327650.4:p.Gln80His
ENST00000643536.1:c.240A>C	ENSP00000494429.1:p.Gln80His
ENST00000647331.1:c.240A>C	ENSP00000493953.1:p.Gln80His
ENST00000333371.7:c.240A>C	ENSP00000327650.3:p.Gln80His
ENST00000535906.1:c.159A>C	ENSP00000444053.1:p.Gln53His
ENST00000554264.5:n.163A>C
ENST00000556096.6:n.634A>C
ENST00000557358.1:n.444A>C
ENST00000574755.5:c.178A>C	ENSP00000460413.1:p.Ile60Leu
NM_001289148.1:c.159A>C	NP_001276077.1:p.Gln53His
NM_001289149.1:c.-34A>C	NP_001276078.1:n.-34A>C
NM_018668.4:c.240A>C , LRG_884t1:c.240A>C	NP_061138.3:p.Gln80His
XM_005254884.2:c.240A>C	XP_005254941.1:p.Gln80His
XM_005254887.1:c.-34A>C	XP_005254944.1:n.-34A>C
XM_005254888.2:c.240A>C	XP_005254945.1:p.Gln80His
XM_011521448.1:c.-34A>C	XP_011519750.1:n.-34A>C
XM_017022075.2:c.-122A>C	XP_016877564.1:n.-122A>C
XM_017022076.1:c.-122A>C	XP_016877565.1:n.-122A>C
XR_001751213.2:n.576A>C
NM_018668.5:c.240A>C MANE Select	NP_061138.3:p.Gln80His