Canonical Allele Identifier: CA371790678

Gene: VPS13B

Linked Data

• dbSNP Id: rs1400245472
• gnomAD v2: 8-100874130-A-C
• gnomAD v4: 8-99861902-A-C
• MyVariant Identifiers: chr8:g.100874130A>C (hg19) ; chr8:g.99861902A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99861902A>C , CM000670.2:g.99861902A>C	GRCh38
NC_000008.10:g.100874130A>C , CM000670.1:g.100874130A>C	GRCh37
NC_000008.9:g.100943306A>C	NCBI36
NG_007098.2:g.853637A>C , LRG_351:g.853637A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682153.1:c.*340A>C	ENSP00000507923.1:n.*340A>C
ENST00000682358.1:n.11316A>C
ENST00000683334.1:c.*6928A>C	ENSP00000507369.1:n.*6928A>C
ENST00000357162.7:c.11171A>C MANE Select	ENSP00000349685.2:p.Glu3724Ala
ENST00000358544.7:c.11246A>C MANE Plus Clinical	ENSP00000351346.2:p.Glu3749Ala
ENST00000357162.6:c.11171A>C	ENSP00000349685.2:p.Glu3724Ala
ENST00000358544.6:c.11246A>C	ENSP00000351346.2:p.Glu3749Ala
NM_017890.4:c.11246A>C , LRG_351t1:c.11246A>C	NP_060360.3:p.Glu3749Ala
NM_152564.4:c.11171A>C , LRG_351t2:c.11171A>C	NP_689777.3:p.Glu3724Ala
XM_005250800.2:c.11246A>C	XP_005250857.1:p.Glu3749Ala
XM_005250801.3:c.11246A>C	XP_005250858.1:p.Glu3749Ala
XM_011516848.1:c.11243A>C	XP_011515150.1:p.Glu3748Ala
XM_011516849.1:c.11168A>C	XP_011515151.1:p.Glu3723Ala
XM_011516850.1:c.10868A>C	XP_011515152.1:p.Glu3623Ala
XM_011516851.1:c.8132A>C	XP_011515153.1:p.Glu2711Ala
XM_011516852.1:c.8132A>C	XP_011515154.1:p.Glu2711Ala
XM_011516854.1:c.7025A>C	XP_011515156.1:p.Glu2342Ala
XM_005250800.3:c.11246A>C	XP_005250857.1:p.Glu3749Ala
XM_005250801.5:c.11246A>C	XP_005250858.1:p.Glu3749Ala
XM_011516848.2:c.11243A>C	XP_011515150.1:p.Glu3748Ala
XM_011516849.2:c.11168A>C	XP_011515151.1:p.Glu3723Ala
XM_011516850.2:c.10868A>C	XP_011515152.1:p.Glu3623Ala
XM_011516851.2:c.8132A>C	XP_011515153.1:p.Glu2711Ala
XM_011516852.2:c.8132A>C	XP_011515154.1:p.Glu2711Ala
XM_011516854.2:c.7025A>C	XP_011515156.1:p.Glu2342Ala
XM_017013109.1:c.11051A>C	XP_016868598.1:p.Glu3684Ala
XM_017013111.1:c.8132A>C	XP_016868600.1:p.Glu2711Ala
XM_017013112.1:c.6803A>C	XP_016868601.1:p.Glu2268Ala
XM_024447074.1:c.10031A>C	XP_024302842.1:p.Glu3344Ala
NM_017890.5:c.11246A>C MANE Plus Clinical	NP_060360.3:p.Glu3749Ala
NM_152564.5:c.11171A>C MANE Select	NP_689777.3:p.Glu3724Ala