Canonical Allele Identifier: CA371867321

Gene: VPS13B

Linked Data

• MyVariant Identifiers: chr8:g.100729515G>C (hg19) ; chr8:g.99717287G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99717287G>C , CM000670.2:g.99717287G>C	GRCh38
NC_000008.10:g.100729515G>C , CM000670.1:g.100729515G>C	GRCh37
NC_000008.9:g.100798691G>C	NCBI36
NG_007098.2:g.709022G>C , LRG_351:g.709022G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682153.1:c.6646G>C	ENSP00000507923.1:p.Ala2216Pro
ENST00000682358.1:n.6716G>C
ENST00000683334.1:c.*2328G>C	ENSP00000507369.1:n.*2328G>C
ENST00000357162.7:c.6571G>C MANE Select	ENSP00000349685.2:p.Ala2191Pro
ENST00000358544.7:c.6646G>C MANE Plus Clinical	ENSP00000351346.2:p.Ala2216Pro
ENST00000357162.6:c.6571G>C	ENSP00000349685.2:p.Ala2191Pro
ENST00000358544.6:c.6646G>C	ENSP00000351346.2:p.Ala2216Pro
NM_017890.4:c.6646G>C , LRG_351t1:c.6646G>C	NP_060360.3:p.Ala2216Pro
NM_152564.4:c.6571G>C , LRG_351t2:c.6571G>C	NP_689777.3:p.Ala2191Pro
XM_005250800.2:c.6646G>C	XP_005250857.1:p.Ala2216Pro
XM_005250801.3:c.6646G>C	XP_005250858.1:p.Ala2216Pro
XM_011516848.1:c.6643G>C	XP_011515150.1:p.Ala2215Pro
XM_011516849.1:c.6568G>C	XP_011515151.1:p.Ala2190Pro
XM_011516850.1:c.6268G>C	XP_011515152.1:p.Ala2090Pro
XM_011516851.1:c.3532G>C	XP_011515153.1:p.Ala1178Pro
XM_011516852.1:c.3532G>C	XP_011515154.1:p.Ala1178Pro
XM_011516853.1:c.6646G>C	XP_011515155.1:p.Ala2216Pro
XM_011516854.1:c.2425G>C	XP_011515156.1:p.Ala809Pro
XM_005250800.3:c.6646G>C	XP_005250857.1:p.Ala2216Pro
XM_005250801.5:c.6646G>C	XP_005250858.1:p.Ala2216Pro
XM_011516848.2:c.6643G>C	XP_011515150.1:p.Ala2215Pro
XM_011516849.2:c.6568G>C	XP_011515151.1:p.Ala2190Pro
XM_011516850.2:c.6268G>C	XP_011515152.1:p.Ala2090Pro
XM_011516851.2:c.3532G>C	XP_011515153.1:p.Ala1178Pro
XM_011516852.2:c.3532G>C	XP_011515154.1:p.Ala1178Pro
XM_011516853.2:c.6646G>C	XP_011515155.1:p.Ala2216Pro
XM_011516854.2:c.2425G>C	XP_011515156.1:p.Ala809Pro
XM_017013109.1:c.6451G>C	XP_016868598.1:p.Ala2151Pro
XM_017013111.1:c.3532G>C	XP_016868600.1:p.Ala1178Pro
XM_017013112.1:c.2203G>C	XP_016868601.1:p.Ala735Pro
XM_024447074.1:c.5431G>C	XP_024302842.1:p.Ala1811Pro
NM_017890.5:c.6646G>C MANE Plus Clinical	NP_060360.3:p.Ala2216Pro
NM_152564.5:c.6571G>C MANE Select	NP_689777.3:p.Ala2191Pro