Canonical Allele Identifier: CA393886644

Gene: VPS33B

Linked Data

• gnomAD v4: 15-91002142-C-G
• MyVariant Identifiers: chr15:g.91545372C>G (hg19) ; chr15:g.91002142C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.91002142C>G , CM000677.2:g.91002142C>G	GRCh38
NC_000015.9:g.91545372C>G , CM000677.1:g.91545372C>G	GRCh37
NC_000015.8:g.89346376C>G	NCBI36
NG_012162.1:g.25462G>C , LRG_884:g.25462G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333371.8:c.1313G>C MANE Select	ENSP00000327650.4:p.Arg438Pro
ENST00000643536.1:c.1313G>C	ENSP00000494429.1:p.Arg438Pro
ENST00000647331.1:c.1313G>C	ENSP00000493953.1:p.Arg438Pro
ENST00000333371.7:c.1313G>C	ENSP00000327650.3:p.Arg438Pro
ENST00000535906.1:c.1232G>C	ENSP00000444053.1:p.Arg411Pro
ENST00000574755.5:c.*1008G>C	ENSP00000460413.1:n.*1008G>C
NM_001289148.1:c.1232G>C	NP_001276077.1:p.Arg411Pro
NM_001289149.1:c.1040G>C	NP_001276078.1:p.Arg347Pro
NM_018668.4:c.1313G>C , LRG_884t1:c.1313G>C	NP_061138.3:p.Arg438Pro
XM_005254884.2:c.1235G>C	XP_005254941.1:p.Arg412Pro
XM_005254887.1:c.1040G>C	XP_005254944.1:p.Arg347Pro
XM_011521448.1:c.1040G>C	XP_011519750.1:p.Arg347Pro
XM_011521449.1:c.989G>C	XP_011519751.1:p.Arg330Pro
XM_011521449.2:c.989G>C	XP_011519751.1:p.Arg330Pro
XM_017022075.2:c.968G>C	XP_016877564.1:p.Arg323Pro
XM_017022076.1:c.968G>C	XP_016877565.1:p.Arg323Pro
XR_001751213.2:n.1811G>C
NM_018668.5:c.1313G>C MANE Select	NP_061138.3:p.Arg438Pro