Canonical Allele Identifier: CA371784396

Gene: VPS13B

Linked Data

• MyVariant Identifiers: chr8:g.100847880C>A (hg19) ; chr8:g.99835652C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99835652C>A , CM000670.2:g.99835652C>A	GRCh38
NC_000008.10:g.100847880C>A , CM000670.1:g.100847880C>A	GRCh37
NC_000008.9:g.100917056C>A	NCBI36
NG_007098.2:g.827387C>A , LRG_351:g.827387C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682153.1:c.9931C>A	ENSP00000507923.1:p.Pro3311Thr
ENST00000682358.1:n.10001C>A
ENST00000683334.1:c.*5613C>A	ENSP00000507369.1:n.*5613C>A
ENST00000357162.7:c.9856C>A MANE Select	ENSP00000349685.2:p.Pro3286Thr
ENST00000358544.7:c.9931C>A MANE Plus Clinical	ENSP00000351346.2:p.Pro3311Thr
ENST00000357162.6:c.9856C>A	ENSP00000349685.2:p.Pro3286Thr
ENST00000358544.6:c.9931C>A	ENSP00000351346.2:p.Pro3311Thr
NM_017890.4:c.9931C>A , LRG_351t1:c.9931C>A	NP_060360.3:p.Pro3311Thr
NM_152564.4:c.9856C>A , LRG_351t2:c.9856C>A	NP_689777.3:p.Pro3286Thr
XM_005250800.2:c.9931C>A	XP_005250857.1:p.Pro3311Thr
XM_005250801.3:c.9931C>A	XP_005250858.1:p.Pro3311Thr
XM_011516848.1:c.9928C>A	XP_011515150.1:p.Pro3310Thr
XM_011516849.1:c.9853C>A	XP_011515151.1:p.Pro3285Thr
XM_011516850.1:c.9553C>A	XP_011515152.1:p.Pro3185Thr
XM_011516851.1:c.6817C>A	XP_011515153.1:p.Pro2273Thr
XM_011516852.1:c.6817C>A	XP_011515154.1:p.Pro2273Thr
XM_011516854.1:c.5710C>A	XP_011515156.1:p.Pro1904Thr
XM_005250800.3:c.9931C>A	XP_005250857.1:p.Pro3311Thr
XM_005250801.5:c.9931C>A	XP_005250858.1:p.Pro3311Thr
XM_011516848.2:c.9928C>A	XP_011515150.1:p.Pro3310Thr
XM_011516849.2:c.9853C>A	XP_011515151.1:p.Pro3285Thr
XM_011516850.2:c.9553C>A	XP_011515152.1:p.Pro3185Thr
XM_011516851.2:c.6817C>A	XP_011515153.1:p.Pro2273Thr
XM_011516852.2:c.6817C>A	XP_011515154.1:p.Pro2273Thr
XM_011516854.2:c.5710C>A	XP_011515156.1:p.Pro1904Thr
XM_017013109.1:c.9736C>A	XP_016868598.1:p.Pro3246Thr
XM_017013111.1:c.6817C>A	XP_016868600.1:p.Pro2273Thr
XM_017013112.1:c.5488C>A	XP_016868601.1:p.Pro1830Thr
XM_024447074.1:c.8716C>A	XP_024302842.1:p.Pro2906Thr
NM_017890.5:c.9931C>A MANE Plus Clinical	NP_060360.3:p.Pro3311Thr
NM_152564.5:c.9856C>A MANE Select	NP_689777.3:p.Pro3286Thr