Canonical Allele Identifier: CA492204431
Gene: VPS33B HGNC NCBI

Linked Data

MyVariant Identifiers: chr15:g.91545376G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.91002146G>A , CM000677.2:g.91002146G>A GRCh38
NC_000015.9:g.91545376G>A , CM000677.1:g.91545376G>A GRCh37
NC_000015.8:g.89346380G>A NCBI36
NG_012162.1:g.25458C>T , LRG_884:g.25458C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000333371.8:c.1309C>T MANE Select ENSP00000327650.4:p.Leu437=
ENST00000643536.1:c.1309C>T ENSP00000494429.1:p.Leu437=
ENST00000647331.1:c.1309C>T ENSP00000493953.1:p.Leu437=
ENST00000333371.7:c.1309C>T ENSP00000327650.3:p.Leu437=
ENST00000535906.1:c.1228C>T ENSP00000444053.1:p.Leu410=
ENST00000574755.5:c.*1004C>T ENSP00000460413.1:n.*1004C>T
NM_001289148.1:c.1228C>T NP_001276077.1:p.Leu410=
NM_001289149.1:c.1036C>T NP_001276078.1:p.Leu346=
NM_018668.4:c.1309C>T , LRG_884t1:c.1309C>T NP_061138.3:p.Leu437=
XM_005254884.2:c.1231C>T XP_005254941.1:p.Leu411=
XM_005254887.1:c.1036C>T XP_005254944.1:p.Leu346=
XM_011521448.1:c.1036C>T XP_011519750.1:p.Leu346=
XM_011521449.1:c.985C>T XP_011519751.1:p.Leu329=
XM_011521449.2:c.985C>T XP_011519751.1:p.Leu329=
XM_017022075.2:c.964C>T XP_016877564.1:p.Leu322=
XM_017022076.1:c.964C>T XP_016877565.1:p.Leu322=
XR_001751213.2:n.1807C>T
NM_018668.5:c.1309C>T MANE Select NP_061138.3:p.Leu437=