Canonical Allele Identifier: CA393886573

Gene: VPS33B

Linked Data

• gnomAD v4: 15-91002127-A-G
• MyVariant Identifiers: chr15:g.91545357A>G (hg19) ; chr15:g.91002127A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.91002127A>G , CM000677.2:g.91002127A>G	GRCh38
NC_000015.9:g.91545357A>G , CM000677.1:g.91545357A>G	GRCh37
NC_000015.8:g.89346361A>G	NCBI36
NG_012162.1:g.25477T>C , LRG_884:g.25477T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333371.8:c.1328T>C MANE Select	ENSP00000327650.4:p.Leu443Pro
ENST00000643536.1:c.1328T>C	ENSP00000494429.1:p.Leu443Pro
ENST00000647331.1:c.1328T>C	ENSP00000493953.1:p.Leu443Pro
ENST00000333371.7:c.1328T>C	ENSP00000327650.3:p.Leu443Pro
ENST00000535906.1:c.1247T>C	ENSP00000444053.1:p.Leu416Pro
ENST00000574755.5:c.*1023T>C	ENSP00000460413.1:n.*1023T>C
NM_001289148.1:c.1247T>C	NP_001276077.1:p.Leu416Pro
NM_001289149.1:c.1055T>C	NP_001276078.1:p.Leu352Pro
NM_018668.4:c.1328T>C , LRG_884t1:c.1328T>C	NP_061138.3:p.Leu443Pro
XM_005254884.2:c.1250T>C	XP_005254941.1:p.Leu417Pro
XM_005254887.1:c.1055T>C	XP_005254944.1:p.Leu352Pro
XM_011521448.1:c.1055T>C	XP_011519750.1:p.Leu352Pro
XM_011521449.1:c.1004T>C	XP_011519751.1:p.Leu335Pro
XM_011521449.2:c.1004T>C	XP_011519751.1:p.Leu335Pro
XM_017022075.2:c.983T>C	XP_016877564.1:p.Leu328Pro
XM_017022076.1:c.983T>C	XP_016877565.1:p.Leu328Pro
XR_001751213.2:n.1826T>C
NM_018668.5:c.1328T>C MANE Select	NP_061138.3:p.Leu443Pro