Canonical Allele Identifier: CA619588520

Gene: VPS33B

Linked Data

• dbSNP Id: rs1291889246
• gnomAD v2: 15-91565663-C-G
• gnomAD v3: 15-91022433-C-G
• gnomAD v4: 15-91022433-C-G
• MyVariant Identifiers: chr15:g.91565663C>G (hg19) ; chr15:g.91022433C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.91022433C>G , CM000677.2:g.91022433C>G	GRCh38
NC_000015.9:g.91565663C>G , CM000677.1:g.91565663C>G	GRCh37
NC_000015.8:g.89366667C>G	NCBI36
NG_012162.1:g.5171G>C , LRG_884:g.5171G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333371.8:c.-184G>C MANE Select	ENSP00000327650.4:n.-184G>C
ENST00000643536.1:c.-184G>C	ENSP00000494429.1:n.-184G>C
ENST00000333371.7:c.-184G>C	ENSP00000327650.3:n.-184G>C
ENST00000535906.1:c.-184G>C	ENSP00000444053.1:n.-184G>C
ENST00000556096.6:n.171G>C
ENST00000557358.1:n.164G>C
ENST00000574755.5:c.-184G>C	ENSP00000460413.1:n.-184G>C
NM_001289148.1:c.-184G>C	NP_001276077.1:n.-184G>C
NM_001289149.1:c.-395G>C	NP_001276078.1:n.-395G>C
NM_018668.4:c.-184G>C , LRG_884t1:c.-184G>C	NP_061138.3:n.-184G>C
XM_005254884.2:c.-184G>C	XP_005254941.1:n.-184G>C
XM_005254887.1:c.-314G>C	XP_005254944.1:n.-314G>C
XM_005254888.2:c.-184G>C	XP_005254945.1:n.-184G>C
XM_011521448.1:c.-497G>C	XP_011519750.1:n.-497G>C
XM_017022075.2:c.-545G>C	XP_016877564.1:n.-545G>C
XM_017022076.1:c.-402G>C	XP_016877565.1:n.-402G>C
XR_001751213.2:n.153G>C
NM_018668.5:c.-184G>C MANE Select	NP_061138.3:n.-184G>C