Canonical Allele Identifier: CA371875588

Gene: VPS13B

Linked Data

• ClinVar Variation Id: 2091761
• ClinVar RCV Id: RCV003015767
• MyVariant Identifiers: chr8:g.100789028A>C (hg19) ; chr8:g.99776800A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99776800A>C , CM000670.2:g.99776800A>C	GRCh38
NC_000008.10:g.100789028A>C , CM000670.1:g.100789028A>C	GRCh37
NC_000008.9:g.100858204A>C	NCBI36
NG_007098.2:g.768535A>C , LRG_351:g.768535A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682153.1:c.7348A>C	ENSP00000507923.1:p.Ser2450Arg
ENST00000682358.1:n.7418A>C
ENST00000683334.1:c.*3030A>C	ENSP00000507369.1:n.*3030A>C
ENST00000357162.7:c.7273A>C MANE Select	ENSP00000349685.2:p.Ser2425Arg
ENST00000358544.7:c.7348A>C MANE Plus Clinical	ENSP00000351346.2:p.Ser2450Arg
ENST00000357162.6:c.7273A>C	ENSP00000349685.2:p.Ser2425Arg
ENST00000358544.6:c.7348A>C	ENSP00000351346.2:p.Ser2450Arg
ENST00000518569.1:n.378-1882A>C
NM_017890.4:c.7348A>C , LRG_351t1:c.7348A>C	NP_060360.3:p.Ser2450Arg
NM_152564.4:c.7273A>C , LRG_351t2:c.7273A>C	NP_689777.3:p.Ser2425Arg
XM_005250800.2:c.7348A>C	XP_005250857.1:p.Ser2450Arg
XM_005250801.3:c.7348A>C	XP_005250858.1:p.Ser2450Arg
XM_011516848.1:c.7345A>C	XP_011515150.1:p.Ser2449Arg
XM_011516849.1:c.7270A>C	XP_011515151.1:p.Ser2424Arg
XM_011516850.1:c.6970A>C	XP_011515152.1:p.Ser2324Arg
XM_011516851.1:c.4234A>C	XP_011515153.1:p.Ser1412Arg
XM_011516852.1:c.4234A>C	XP_011515154.1:p.Ser1412Arg
XM_011516853.1:c.7348A>C	XP_011515155.1:p.Ser2450Arg
XM_011516854.1:c.3127A>C	XP_011515156.1:p.Ser1043Arg
XR_928446.1:n.1830+5678T>G
XM_005250800.3:c.7348A>C	XP_005250857.1:p.Ser2450Arg
XM_005250801.5:c.7348A>C	XP_005250858.1:p.Ser2450Arg
XM_011516848.2:c.7345A>C	XP_011515150.1:p.Ser2449Arg
XM_011516849.2:c.7270A>C	XP_011515151.1:p.Ser2424Arg
XM_011516850.2:c.6970A>C	XP_011515152.1:p.Ser2324Arg
XM_011516851.2:c.4234A>C	XP_011515153.1:p.Ser1412Arg
XM_011516852.2:c.4234A>C	XP_011515154.1:p.Ser1412Arg
XM_011516853.2:c.7348A>C	XP_011515155.1:p.Ser2450Arg
XM_011516854.2:c.3127A>C	XP_011515156.1:p.Ser1043Arg
XM_017013109.1:c.7153A>C	XP_016868598.1:p.Ser2385Arg
XM_017013111.1:c.4234A>C	XP_016868600.1:p.Ser1412Arg
XM_017013112.1:c.2905A>C	XP_016868601.1:p.Ser969Arg
XM_024447074.1:c.6133A>C	XP_024302842.1:p.Ser2045Arg
NM_017890.5:c.7348A>C MANE Plus Clinical	NP_060360.3:p.Ser2450Arg
NM_152564.5:c.7273A>C MANE Select	NP_689777.3:p.Ser2425Arg