Canonical Allele Identifier: CA201899

Gene: VPS33B

Linked Data

• ClinVar Variation Id: 195694
• ClinVar RCV Id: RCV000176323 ; RCV000405773 ; RCV000885290
• dbSNP Id: rs146999653
• ExAC: 15:91542980 G / A
• gnomAD v2: 15-91542980-G-A
• gnomAD v3: 15-90999750-G-A
• gnomAD v4: 15-90999750-G-A
• MyVariant Identifiers: chr15:g.91542980G>A (hg19) ; chr15:g.90999750G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.90999750G>A , CM000677.2:g.90999750G>A	GRCh38
NC_000015.9:g.91542980G>A , CM000677.1:g.91542980G>A	GRCh37
NC_000015.8:g.89343984G>A	NCBI36
NG_012162.1:g.27854C>T , LRG_884:g.27854C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333371.8:c.1701C>T MANE Select	ENSP00000327650.4:p.Leu567=
ENST00000643536.1:c.1701C>T	ENSP00000494429.1:p.Leu567=
ENST00000647331.1:c.1701C>T	ENSP00000493953.1:p.Leu567=
ENST00000333371.7:c.1701C>T	ENSP00000327650.3:p.Leu567=
ENST00000535906.1:c.1620C>T	ENSP00000444053.1:p.Leu540=
ENST00000554660.1:n.636C>T
ENST00000557470.5:n.148-696C>T
ENST00000574755.5:c.*1396C>T	ENSP00000460413.1:n.*1396C>T
NM_001289148.1:c.1620C>T	NP_001276077.1:p.Leu540=
NM_001289149.1:c.1428C>T	NP_001276078.1:p.Leu476=
NM_018668.4:c.1701C>T , LRG_884t1:c.1701C>T	NP_061138.3:p.Leu567=
XM_005254884.2:c.1623C>T	XP_005254941.1:p.Leu541=
XM_005254887.1:c.1428C>T	XP_005254944.1:p.Leu476=
XM_011521448.1:c.1428C>T	XP_011519750.1:p.Leu476=
XM_011521449.1:c.1377C>T	XP_011519751.1:p.Leu459=
XM_011521449.2:c.1377C>T	XP_011519751.1:p.Leu459=
XM_017022075.2:c.1356C>T	XP_016877564.1:p.Leu452=
XM_017022076.1:c.1356C>T	XP_016877565.1:p.Leu452=
XR_001751213.2:n.2199C>T
NM_018668.5:c.1701C>T MANE Select	NP_061138.3:p.Leu567=