Canonical Allele Identifier: CA4824736

Gene: VPS13B

Linked Data

• ClinVar Variation Id: 1559931
• ClinVar RCV Id: RCV002209015
• dbSNP Id: rs747611342
• ExAC: 8:100844874 G / C
• gnomAD v2: 8-100844874-G-C
• gnomAD v3: 8-99832646-G-C
• gnomAD v4: 8-99832646-G-C
• MyVariant Identifiers: chr8:g.100844874G>C (hg19) ; chr8:g.99832646G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99832646G>C , CM000670.2:g.99832646G>C	GRCh38
NC_000008.10:g.100844874G>C , CM000670.1:g.100844874G>C	GRCh37
NC_000008.9:g.100914050G>C	NCBI36
NG_007098.2:g.824381G>C , LRG_351:g.824381G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682153.1:c.9683G>C	ENSP00000507923.1:p.Cys3228Ser
ENST00000682358.1:n.9753G>C
ENST00000683334.1:c.*5365G>C	ENSP00000507369.1:n.*5365G>C
ENST00000357162.7:c.9608G>C MANE Select	ENSP00000349685.2:p.Cys3203Ser
ENST00000358544.7:c.9683G>C MANE Plus Clinical	ENSP00000351346.2:p.Cys3228Ser
ENST00000357162.6:c.9608G>C	ENSP00000349685.2:p.Cys3203Ser
ENST00000358544.6:c.9683G>C	ENSP00000351346.2:p.Cys3228Ser
NM_017890.4:c.9683G>C , LRG_351t1:c.9683G>C	NP_060360.3:p.Cys3228Ser
NM_152564.4:c.9608G>C , LRG_351t2:c.9608G>C	NP_689777.3:p.Cys3203Ser
XM_005250800.2:c.9683G>C	XP_005250857.1:p.Cys3228Ser
XM_005250801.3:c.9683G>C	XP_005250858.1:p.Cys3228Ser
XM_011516848.1:c.9680G>C	XP_011515150.1:p.Cys3227Ser
XM_011516849.1:c.9605G>C	XP_011515151.1:p.Cys3202Ser
XM_011516850.1:c.9305G>C	XP_011515152.1:p.Cys3102Ser
XM_011516851.1:c.6569G>C	XP_011515153.1:p.Cys2190Ser
XM_011516852.1:c.6569G>C	XP_011515154.1:p.Cys2190Ser
XM_011516854.1:c.5462G>C	XP_011515156.1:p.Cys1821Ser
XM_005250800.3:c.9683G>C	XP_005250857.1:p.Cys3228Ser
XM_005250801.5:c.9683G>C	XP_005250858.1:p.Cys3228Ser
XM_011516848.2:c.9680G>C	XP_011515150.1:p.Cys3227Ser
XM_011516849.2:c.9605G>C	XP_011515151.1:p.Cys3202Ser
XM_011516850.2:c.9305G>C	XP_011515152.1:p.Cys3102Ser
XM_011516851.2:c.6569G>C	XP_011515153.1:p.Cys2190Ser
XM_011516852.2:c.6569G>C	XP_011515154.1:p.Cys2190Ser
XM_011516854.2:c.5462G>C	XP_011515156.1:p.Cys1821Ser
XM_017013109.1:c.9488G>C	XP_016868598.1:p.Cys3163Ser
XM_017013111.1:c.6569G>C	XP_016868600.1:p.Cys2190Ser
XM_017013112.1:c.5240G>C	XP_016868601.1:p.Cys1747Ser
XM_024447074.1:c.8468G>C	XP_024302842.1:p.Cys2823Ser
NM_017890.5:c.9683G>C MANE Plus Clinical	NP_060360.3:p.Cys3228Ser
NM_152564.5:c.9608G>C MANE Select	NP_689777.3:p.Cys3203Ser