Canonical Allele Identifier: CA371875557

Gene: VPS13B

Linked Data

• gnomAD v4: 8-99776785-G-T
• MyVariant Identifiers: chr8:g.100789013G>T (hg19) ; chr8:g.99776785G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99776785G>T , CM000670.2:g.99776785G>T	GRCh38
NC_000008.10:g.100789013G>T , CM000670.1:g.100789013G>T	GRCh37
NC_000008.9:g.100858189G>T	NCBI36
NG_007098.2:g.768520G>T , LRG_351:g.768520G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000682153.1:c.7333G>T	ENSP00000507923.1:p.Glu2445Ter
ENST00000682358.1:n.7403G>T
ENST00000683334.1:c.*3015G>T	ENSP00000507369.1:n.*3015G>T
ENST00000357162.7:c.7258G>T MANE Select	ENSP00000349685.2:p.Glu2420Ter
ENST00000358544.7:c.7333G>T MANE Plus Clinical	ENSP00000351346.2:p.Glu2445Ter
ENST00000357162.6:c.7258G>T	ENSP00000349685.2:p.Glu2420Ter
ENST00000358544.6:c.7333G>T	ENSP00000351346.2:p.Glu2445Ter
ENST00000518569.1:n.378-1897G>T
NM_017890.4:c.7333G>T , LRG_351t1:c.7333G>T	NP_060360.3:p.Glu2445Ter
NM_152564.4:c.7258G>T , LRG_351t2:c.7258G>T	NP_689777.3:p.Glu2420Ter
XM_005250800.2:c.7333G>T	XP_005250857.1:p.Glu2445Ter
XM_005250801.3:c.7333G>T	XP_005250858.1:p.Glu2445Ter
XM_011516848.1:c.7330G>T	XP_011515150.1:p.Glu2444Ter
XM_011516849.1:c.7255G>T	XP_011515151.1:p.Glu2419Ter
XM_011516850.1:c.6955G>T	XP_011515152.1:p.Glu2319Ter
XM_011516851.1:c.4219G>T	XP_011515153.1:p.Glu1407Ter
XM_011516852.1:c.4219G>T	XP_011515154.1:p.Glu1407Ter
XM_011516853.1:c.7333G>T	XP_011515155.1:p.Glu2445Ter
XM_011516854.1:c.3112G>T	XP_011515156.1:p.Glu1038Ter
XR_928446.1:n.1830+5693C>A
XM_005250800.3:c.7333G>T	XP_005250857.1:p.Glu2445Ter
XM_005250801.5:c.7333G>T	XP_005250858.1:p.Glu2445Ter
XM_011516848.2:c.7330G>T	XP_011515150.1:p.Glu2444Ter
XM_011516849.2:c.7255G>T	XP_011515151.1:p.Glu2419Ter
XM_011516850.2:c.6955G>T	XP_011515152.1:p.Glu2319Ter
XM_011516851.2:c.4219G>T	XP_011515153.1:p.Glu1407Ter
XM_011516852.2:c.4219G>T	XP_011515154.1:p.Glu1407Ter
XM_011516853.2:c.7333G>T	XP_011515155.1:p.Glu2445Ter
XM_011516854.2:c.3112G>T	XP_011515156.1:p.Glu1038Ter
XM_017013109.1:c.7138G>T	XP_016868598.1:p.Glu2380Ter
XM_017013111.1:c.4219G>T	XP_016868600.1:p.Glu1407Ter
XM_017013112.1:c.2890G>T	XP_016868601.1:p.Glu964Ter
XM_024447074.1:c.6118G>T	XP_024302842.1:p.Glu2040Ter
NM_017890.5:c.7333G>T MANE Plus Clinical	NP_060360.3:p.Glu2445Ter
NM_152564.5:c.7258G>T MANE Select	NP_689777.3:p.Glu2420Ter