Canonical Allele Identifier: CA393886690

Gene: VPS33B

Linked Data

• MyVariant Identifiers: chr15:g.91545383G>C (hg19) ; chr15:g.91002153G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.91002153G>C , CM000677.2:g.91002153G>C	GRCh38
NC_000015.9:g.91545383G>C , CM000677.1:g.91545383G>C	GRCh37
NC_000015.8:g.89346387G>C	NCBI36
NG_012162.1:g.25451C>G , LRG_884:g.25451C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333371.8:c.1302C>G MANE Select	ENSP00000327650.4:p.Phe434Leu
ENST00000643536.1:c.1302C>G	ENSP00000494429.1:p.Phe434Leu
ENST00000647331.1:c.1302C>G	ENSP00000493953.1:p.Phe434Leu
ENST00000333371.7:c.1302C>G	ENSP00000327650.3:p.Phe434Leu
ENST00000535906.1:c.1221C>G	ENSP00000444053.1:p.Phe407Leu
ENST00000574755.5:c.*997C>G	ENSP00000460413.1:n.*997C>G
NM_001289148.1:c.1221C>G	NP_001276077.1:p.Phe407Leu
NM_001289149.1:c.1029C>G	NP_001276078.1:p.Phe343Leu
NM_018668.4:c.1302C>G , LRG_884t1:c.1302C>G	NP_061138.3:p.Phe434Leu
XM_005254884.2:c.1224C>G	XP_005254941.1:p.Phe408Leu
XM_005254887.1:c.1029C>G	XP_005254944.1:p.Phe343Leu
XM_011521448.1:c.1029C>G	XP_011519750.1:p.Phe343Leu
XM_011521449.1:c.978C>G	XP_011519751.1:p.Phe326Leu
XM_011521449.2:c.978C>G	XP_011519751.1:p.Phe326Leu
XM_017022075.2:c.957C>G	XP_016877564.1:p.Phe319Leu
XM_017022076.1:c.957C>G	XP_016877565.1:p.Phe319Leu
XR_001751213.2:n.1800C>G
NM_018668.5:c.1302C>G MANE Select	NP_061138.3:p.Phe434Leu