Canonical Allele Identifier: CA393886431

Gene: VPS33B

Linked Data

• gnomAD v4: 15-91002062-C-A
• MyVariant Identifiers: chr15:g.91545292C>A (hg19) ; chr15:g.91002062C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.91002062C>A , CM000677.2:g.91002062C>A	GRCh38
NC_000015.9:g.91545292C>A , CM000677.1:g.91545292C>A	GRCh37
NC_000015.8:g.89346296C>A	NCBI36
NG_012162.1:g.25542G>T , LRG_884:g.25542G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333371.8:c.1393G>T MANE Select	ENSP00000327650.4:p.Asp465Tyr
ENST00000643536.1:c.1393G>T	ENSP00000494429.1:p.Asp465Tyr
ENST00000647331.1:c.1393G>T	ENSP00000493953.1:p.Asp465Tyr
ENST00000333371.7:c.1393G>T	ENSP00000327650.3:p.Asp465Tyr
ENST00000535906.1:c.1312G>T	ENSP00000444053.1:p.Asp438Tyr
ENST00000574755.5:c.*1088G>T	ENSP00000460413.1:n.*1088G>T
NM_001289148.1:c.1312G>T	NP_001276077.1:p.Asp438Tyr
NM_001289149.1:c.1120G>T	NP_001276078.1:p.Asp374Tyr
NM_018668.4:c.1393G>T , LRG_884t1:c.1393G>T	NP_061138.3:p.Asp465Tyr
XM_005254884.2:c.1315G>T	XP_005254941.1:p.Asp439Tyr
XM_005254887.1:c.1120G>T	XP_005254944.1:p.Asp374Tyr
XM_011521448.1:c.1120G>T	XP_011519750.1:p.Asp374Tyr
XM_011521449.1:c.1069G>T	XP_011519751.1:p.Asp357Tyr
XM_011521449.2:c.1069G>T	XP_011519751.1:p.Asp357Tyr
XM_017022075.2:c.1048G>T	XP_016877564.1:p.Asp350Tyr
XM_017022076.1:c.1048G>T	XP_016877565.1:p.Asp350Tyr
XR_001751213.2:n.1891G>T
NM_018668.5:c.1393G>T MANE Select	NP_061138.3:p.Asp465Tyr