Canonical Allele Identifier: CA371867400

Gene: VPS13B

Linked Data

• COSMIC: COSM748172 ; COSM748173
• MyVariant Identifiers: chr8:g.100729551G>T (hg19) ; chr8:g.99717323G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99717323G>T , CM000670.2:g.99717323G>T	GRCh38
NC_000008.10:g.100729551G>T , CM000670.1:g.100729551G>T	GRCh37
NC_000008.9:g.100798727G>T	NCBI36
NG_007098.2:g.709058G>T , LRG_351:g.709058G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682153.1:c.6682G>T	ENSP00000507923.1:p.Glu2228Ter
ENST00000682358.1:n.6752G>T
ENST00000683334.1:c.*2364G>T	ENSP00000507369.1:n.*2364G>T
ENST00000357162.7:c.6607G>T MANE Select	ENSP00000349685.2:p.Glu2203Ter
ENST00000358544.7:c.6682G>T MANE Plus Clinical	ENSP00000351346.2:p.Glu2228Ter
ENST00000357162.6:c.6607G>T	ENSP00000349685.2:p.Glu2203Ter
ENST00000358544.6:c.6682G>T	ENSP00000351346.2:p.Glu2228Ter
NM_017890.4:c.6682G>T , LRG_351t1:c.6682G>T	NP_060360.3:p.Glu2228Ter
NM_152564.4:c.6607G>T , LRG_351t2:c.6607G>T	NP_689777.3:p.Glu2203Ter
XM_005250800.2:c.6682G>T	XP_005250857.1:p.Glu2228Ter
XM_005250801.3:c.6682G>T	XP_005250858.1:p.Glu2228Ter
XM_011516848.1:c.6679G>T	XP_011515150.1:p.Glu2227Ter
XM_011516849.1:c.6604G>T	XP_011515151.1:p.Glu2202Ter
XM_011516850.1:c.6304G>T	XP_011515152.1:p.Glu2102Ter
XM_011516851.1:c.3568G>T	XP_011515153.1:p.Glu1190Ter
XM_011516852.1:c.3568G>T	XP_011515154.1:p.Glu1190Ter
XM_011516853.1:c.6682G>T	XP_011515155.1:p.Glu2228Ter
XM_011516854.1:c.2461G>T	XP_011515156.1:p.Glu821Ter
XM_005250800.3:c.6682G>T	XP_005250857.1:p.Glu2228Ter
XM_005250801.5:c.6682G>T	XP_005250858.1:p.Glu2228Ter
XM_011516848.2:c.6679G>T	XP_011515150.1:p.Glu2227Ter
XM_011516849.2:c.6604G>T	XP_011515151.1:p.Glu2202Ter
XM_011516850.2:c.6304G>T	XP_011515152.1:p.Glu2102Ter
XM_011516851.2:c.3568G>T	XP_011515153.1:p.Glu1190Ter
XM_011516852.2:c.3568G>T	XP_011515154.1:p.Glu1190Ter
XM_011516853.2:c.6682G>T	XP_011515155.1:p.Glu2228Ter
XM_011516854.2:c.2461G>T	XP_011515156.1:p.Glu821Ter
XM_017013109.1:c.6487G>T	XP_016868598.1:p.Glu2163Ter
XM_017013111.1:c.3568G>T	XP_016868600.1:p.Glu1190Ter
XM_017013112.1:c.2239G>T	XP_016868601.1:p.Glu747Ter
XM_024447074.1:c.5467G>T	XP_024302842.1:p.Glu1823Ter
NM_017890.5:c.6682G>T MANE Plus Clinical	NP_060360.3:p.Glu2228Ter
NM_152564.5:c.6607G>T MANE Select	NP_689777.3:p.Glu2203Ter