Canonical Allele Identifier: CA619587447

Gene: VPS33B

Linked Data

• dbSNP Id: rs1242959395
• gnomAD v2: 15-91557670-G-A
• gnomAD v3: 15-91014440-G-A
• gnomAD v4: 15-91014440-G-A
• MyVariant Identifiers: chr15:g.91557670G>A (hg19) ; chr15:g.91014440G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.91014440G>A , CM000677.2:g.91014440G>A	GRCh38
NC_000015.9:g.91557670G>A , CM000677.1:g.91557670G>A	GRCh37
NC_000015.8:g.89358674G>A	NCBI36
NG_012162.1:g.13164C>T , LRG_884:g.13164C>T

Transcript Alleles

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