Canonical Allele Identifier: CA393886425

Gene: VPS33B

Linked Data

• gnomAD v4: 15-91002059-T-G
• MyVariant Identifiers: chr15:g.91545289T>G (hg19) ; chr15:g.91002059T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.91002059T>G , CM000677.2:g.91002059T>G	GRCh38
NC_000015.9:g.91545289T>G , CM000677.1:g.91545289T>G	GRCh37
NC_000015.8:g.89346293T>G	NCBI36
NG_012162.1:g.25545A>C , LRG_884:g.25545A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333371.8:c.1396A>C MANE Select	ENSP00000327650.4:p.Lys466Gln
ENST00000643536.1:c.1396A>C	ENSP00000494429.1:p.Lys466Gln
ENST00000647331.1:c.1396A>C	ENSP00000493953.1:p.Lys466Gln
ENST00000333371.7:c.1396A>C	ENSP00000327650.3:p.Lys466Gln
ENST00000535906.1:c.1315A>C	ENSP00000444053.1:p.Lys439Gln
ENST00000574755.5:c.*1091A>C	ENSP00000460413.1:n.*1091A>C
NM_001289148.1:c.1315A>C	NP_001276077.1:p.Lys439Gln
NM_001289149.1:c.1123A>C	NP_001276078.1:p.Lys375Gln
NM_018668.4:c.1396A>C , LRG_884t1:c.1396A>C	NP_061138.3:p.Lys466Gln
XM_005254884.2:c.1318A>C	XP_005254941.1:p.Lys440Gln
XM_005254887.1:c.1123A>C	XP_005254944.1:p.Lys375Gln
XM_011521448.1:c.1123A>C	XP_011519750.1:p.Lys375Gln
XM_011521449.1:c.1072A>C	XP_011519751.1:p.Lys358Gln
XM_011521449.2:c.1072A>C	XP_011519751.1:p.Lys358Gln
XM_017022075.2:c.1051A>C	XP_016877564.1:p.Lys351Gln
XM_017022076.1:c.1051A>C	XP_016877565.1:p.Lys351Gln
XR_001751213.2:n.1894A>C
NM_018668.5:c.1396A>C MANE Select	NP_061138.3:p.Lys466Gln