Canonical Allele Identifier: CA371875686

Gene: VPS13B

Linked Data

• gnomAD v4: 8-99776849-G-C
• MyVariant Identifiers: chr8:g.100789077G>C (hg19) ; chr8:g.99776849G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99776849G>C , CM000670.2:g.99776849G>C	GRCh38
NC_000008.10:g.100789077G>C , CM000670.1:g.100789077G>C	GRCh37
NC_000008.9:g.100858253G>C	NCBI36
NG_007098.2:g.768584G>C , LRG_351:g.768584G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682153.1:c.7397G>C	ENSP00000507923.1:p.Arg2466Thr
ENST00000682358.1:n.7467G>C
ENST00000683334.1:c.*3079G>C	ENSP00000507369.1:n.*3079G>C
ENST00000357162.7:c.7322G>C MANE Select	ENSP00000349685.2:p.Arg2441Thr
ENST00000358544.7:c.7397G>C MANE Plus Clinical	ENSP00000351346.2:p.Arg2466Thr
ENST00000357162.6:c.7322G>C	ENSP00000349685.2:p.Arg2441Thr
ENST00000358544.6:c.7397G>C	ENSP00000351346.2:p.Arg2466Thr
ENST00000518569.1:n.378-1833G>C
NM_017890.4:c.7397G>C , LRG_351t1:c.7397G>C	NP_060360.3:p.Arg2466Thr
NM_152564.4:c.7322G>C , LRG_351t2:c.7322G>C	NP_689777.3:p.Arg2441Thr
XM_005250800.2:c.7397G>C	XP_005250857.1:p.Arg2466Thr
XM_005250801.3:c.7397G>C	XP_005250858.1:p.Arg2466Thr
XM_011516848.1:c.7394G>C	XP_011515150.1:p.Arg2465Thr
XM_011516849.1:c.7319G>C	XP_011515151.1:p.Arg2440Thr
XM_011516850.1:c.7019G>C	XP_011515152.1:p.Arg2340Thr
XM_011516851.1:c.4283G>C	XP_011515153.1:p.Arg1428Thr
XM_011516852.1:c.4283G>C	XP_011515154.1:p.Arg1428Thr
XM_011516853.1:c.7397G>C	XP_011515155.1:p.Arg2466Thr
XM_011516854.1:c.3176G>C	XP_011515156.1:p.Arg1059Thr
XR_928446.1:n.1830+5629C>G
XM_005250800.3:c.7397G>C	XP_005250857.1:p.Arg2466Thr
XM_005250801.5:c.7397G>C	XP_005250858.1:p.Arg2466Thr
XM_011516848.2:c.7394G>C	XP_011515150.1:p.Arg2465Thr
XM_011516849.2:c.7319G>C	XP_011515151.1:p.Arg2440Thr
XM_011516850.2:c.7019G>C	XP_011515152.1:p.Arg2340Thr
XM_011516851.2:c.4283G>C	XP_011515153.1:p.Arg1428Thr
XM_011516852.2:c.4283G>C	XP_011515154.1:p.Arg1428Thr
XM_011516853.2:c.7397G>C	XP_011515155.1:p.Arg2466Thr
XM_011516854.2:c.3176G>C	XP_011515156.1:p.Arg1059Thr
XM_017013109.1:c.7202G>C	XP_016868598.1:p.Arg2401Thr
XM_017013111.1:c.4283G>C	XP_016868600.1:p.Arg1428Thr
XM_017013112.1:c.2954G>C	XP_016868601.1:p.Arg985Thr
XM_024447074.1:c.6182G>C	XP_024302842.1:p.Arg2061Thr
NM_017890.5:c.7397G>C MANE Plus Clinical	NP_060360.3:p.Arg2466Thr
NM_152564.5:c.7322G>C MANE Select	NP_689777.3:p.Arg2441Thr