Canonical Allele Identifier: CA371791789

Gene: VPS13B

Linked Data

• MyVariant Identifiers: chr8:g.100880542G>C (hg19) ; chr8:g.99868314G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99868314G>C , CM000670.2:g.99868314G>C	GRCh38
NC_000008.10:g.100880542G>C , CM000670.1:g.100880542G>C	GRCh37
NC_000008.9:g.100949718G>C	NCBI36
NG_007098.2:g.860049G>C , LRG_351:g.860049G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000682153.1:c.*410G>C	ENSP00000507923.1:n.*410G>C
ENST00000682358.1:n.11386G>C
ENST00000683334.1:c.*6998G>C	ENSP00000507369.1:n.*6998G>C
ENST00000357162.7:c.11241G>C MANE Select	ENSP00000349685.2:p.Gln3747His
ENST00000358544.7:c.11316G>C MANE Plus Clinical	ENSP00000351346.2:p.Gln3772His
ENST00000357162.6:c.11241G>C	ENSP00000349685.2:p.Gln3747His
ENST00000358544.6:c.11316G>C	ENSP00000351346.2:p.Gln3772His
ENST00000493587.1:n.258G>C
NM_017890.4:c.11316G>C , LRG_351t1:c.11316G>C	NP_060360.3:p.Gln3772His
NM_152564.4:c.11241G>C , LRG_351t2:c.11241G>C	NP_689777.3:p.Gln3747His
XM_005250800.2:c.11316G>C	XP_005250857.1:p.Gln3772His
XM_005250801.3:c.11316G>C	XP_005250858.1:p.Gln3772His
XM_011516848.1:c.11313G>C	XP_011515150.1:p.Gln3771His
XM_011516849.1:c.11238G>C	XP_011515151.1:p.Gln3746His
XM_011516850.1:c.10938G>C	XP_011515152.1:p.Gln3646His
XM_011516851.1:c.8202G>C	XP_011515153.1:p.Gln2734His
XM_011516852.1:c.8202G>C	XP_011515154.1:p.Gln2734His
XM_011516854.1:c.7095G>C	XP_011515156.1:p.Gln2365His
XM_005250800.3:c.11316G>C	XP_005250857.1:p.Gln3772His
XM_005250801.5:c.11316G>C	XP_005250858.1:p.Gln3772His
XM_011516848.2:c.11313G>C	XP_011515150.1:p.Gln3771His
XM_011516849.2:c.11238G>C	XP_011515151.1:p.Gln3746His
XM_011516850.2:c.10938G>C	XP_011515152.1:p.Gln3646His
XM_011516851.2:c.8202G>C	XP_011515153.1:p.Gln2734His
XM_011516852.2:c.8202G>C	XP_011515154.1:p.Gln2734His
XM_011516854.2:c.7095G>C	XP_011515156.1:p.Gln2365His
XM_017013109.1:c.11121G>C	XP_016868598.1:p.Gln3707His
XM_017013111.1:c.8202G>C	XP_016868600.1:p.Gln2734His
XM_017013112.1:c.6873G>C	XP_016868601.1:p.Gln2291His
XM_024447074.1:c.10101G>C	XP_024302842.1:p.Gln3367His
NM_017890.5:c.11316G>C MANE Plus Clinical	NP_060360.3:p.Gln3772His
NM_152564.5:c.11241G>C MANE Select	NP_689777.3:p.Gln3747His