Canonical Allele Identifier: CA371874404

Gene: VPS13B

Linked Data

• dbSNP Id: rs1057516660
• gnomAD v2: 8-100779131-A-C
• gnomAD v4: 8-99766903-A-C
• MyVariant Identifiers: chr8:g.100779131A>C (hg19) ; chr8:g.99766903A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99766903A>C , CM000670.2:g.99766903A>C	GRCh38
NC_000008.10:g.100779131A>C , CM000670.1:g.100779131A>C	GRCh37
NC_000008.9:g.100848307A>C	NCBI36
NG_007098.2:g.758638A>C , LRG_351:g.758638A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000682153.1:c.7255A>C	ENSP00000507923.1:p.Lys2419Gln
ENST00000682358.1:n.7325A>C
ENST00000683334.1:c.*2937A>C	ENSP00000507369.1:n.*2937A>C
ENST00000357162.7:c.7180A>C MANE Select	ENSP00000349685.2:p.Lys2394Gln
ENST00000358544.7:c.7255A>C MANE Plus Clinical	ENSP00000351346.2:p.Lys2419Gln
ENST00000357162.6:c.7180A>C	ENSP00000349685.2:p.Lys2394Gln
ENST00000358544.6:c.7255A>C	ENSP00000351346.2:p.Lys2419Gln
ENST00000518569.1:n.310A>C
NM_017890.4:c.7255A>C , LRG_351t1:c.7255A>C	NP_060360.3:p.Lys2419Gln
NM_152564.4:c.7180A>C , LRG_351t2:c.7180A>C	NP_689777.3:p.Lys2394Gln
XM_005250800.2:c.7255A>C	XP_005250857.1:p.Lys2419Gln
XM_005250801.3:c.7255A>C	XP_005250858.1:p.Lys2419Gln
XM_011516848.1:c.7252A>C	XP_011515150.1:p.Lys2418Gln
XM_011516849.1:c.7177A>C	XP_011515151.1:p.Lys2393Gln
XM_011516850.1:c.6877A>C	XP_011515152.1:p.Lys2293Gln
XM_011516851.1:c.4141A>C	XP_011515153.1:p.Lys1381Gln
XM_011516852.1:c.4141A>C	XP_011515154.1:p.Lys1381Gln
XM_011516853.1:c.7255A>C	XP_011515155.1:p.Lys2419Gln
XM_011516854.1:c.3034A>C	XP_011515156.1:p.Lys1012Gln
XR_928446.1:n.2065+3785T>G
XM_005250800.3:c.7255A>C	XP_005250857.1:p.Lys2419Gln
XM_005250801.5:c.7255A>C	XP_005250858.1:p.Lys2419Gln
XM_011516848.2:c.7252A>C	XP_011515150.1:p.Lys2418Gln
XM_011516849.2:c.7177A>C	XP_011515151.1:p.Lys2393Gln
XM_011516850.2:c.6877A>C	XP_011515152.1:p.Lys2293Gln
XM_011516851.2:c.4141A>C	XP_011515153.1:p.Lys1381Gln
XM_011516852.2:c.4141A>C	XP_011515154.1:p.Lys1381Gln
XM_011516853.2:c.7255A>C	XP_011515155.1:p.Lys2419Gln
XM_011516854.2:c.3034A>C	XP_011515156.1:p.Lys1012Gln
XM_017013109.1:c.7060A>C	XP_016868598.1:p.Lys2354Gln
XM_017013111.1:c.4141A>C	XP_016868600.1:p.Lys1381Gln
XM_017013112.1:c.2812A>C	XP_016868601.1:p.Lys938Gln
XM_024447074.1:c.6040A>C	XP_024302842.1:p.Lys2014Gln
NM_017890.5:c.7255A>C MANE Plus Clinical	NP_060360.3:p.Lys2419Gln
NM_152564.5:c.7180A>C MANE Select	NP_689777.3:p.Lys2394Gln