Canonical Allele Identifier: CA371782385

Gene: VPS13B

Linked Data

• MyVariant Identifiers: chr8:g.100847436T>A (hg19) ; chr8:g.99835208T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99835208T>A , CM000670.2:g.99835208T>A	GRCh38
NC_000008.10:g.100847436T>A , CM000670.1:g.100847436T>A	GRCh37
NC_000008.9:g.100916612T>A	NCBI36
NG_007098.2:g.826943T>A , LRG_351:g.826943T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000682153.1:c.9701T>A	ENSP00000507923.1:p.Leu3234Gln
ENST00000682358.1:n.9771T>A
ENST00000683334.1:c.*5383T>A	ENSP00000507369.1:n.*5383T>A
ENST00000357162.7:c.9626T>A MANE Select	ENSP00000349685.2:p.Leu3209Gln
ENST00000358544.7:c.9701T>A MANE Plus Clinical	ENSP00000351346.2:p.Leu3234Gln
ENST00000357162.6:c.9626T>A	ENSP00000349685.2:p.Leu3209Gln
ENST00000358544.6:c.9701T>A	ENSP00000351346.2:p.Leu3234Gln
NM_017890.4:c.9701T>A , LRG_351t1:c.9701T>A	NP_060360.3:p.Leu3234Gln
NM_152564.4:c.9626T>A , LRG_351t2:c.9626T>A	NP_689777.3:p.Leu3209Gln
XM_005250800.2:c.9701T>A	XP_005250857.1:p.Leu3234Gln
XM_005250801.3:c.9701T>A	XP_005250858.1:p.Leu3234Gln
XM_011516848.1:c.9698T>A	XP_011515150.1:p.Leu3233Gln
XM_011516849.1:c.9623T>A	XP_011515151.1:p.Leu3208Gln
XM_011516850.1:c.9323T>A	XP_011515152.1:p.Leu3108Gln
XM_011516851.1:c.6587T>A	XP_011515153.1:p.Leu2196Gln
XM_011516852.1:c.6587T>A	XP_011515154.1:p.Leu2196Gln
XM_011516854.1:c.5480T>A	XP_011515156.1:p.Leu1827Gln
XM_005250800.3:c.9701T>A	XP_005250857.1:p.Leu3234Gln
XM_005250801.5:c.9701T>A	XP_005250858.1:p.Leu3234Gln
XM_011516848.2:c.9698T>A	XP_011515150.1:p.Leu3233Gln
XM_011516849.2:c.9623T>A	XP_011515151.1:p.Leu3208Gln
XM_011516850.2:c.9323T>A	XP_011515152.1:p.Leu3108Gln
XM_011516851.2:c.6587T>A	XP_011515153.1:p.Leu2196Gln
XM_011516852.2:c.6587T>A	XP_011515154.1:p.Leu2196Gln
XM_011516854.2:c.5480T>A	XP_011515156.1:p.Leu1827Gln
XM_017013109.1:c.9506T>A	XP_016868598.1:p.Leu3169Gln
XM_017013111.1:c.6587T>A	XP_016868600.1:p.Leu2196Gln
XM_017013112.1:c.5258T>A	XP_016868601.1:p.Leu1753Gln
XM_024447074.1:c.8486T>A	XP_024302842.1:p.Leu2829Gln
NM_017890.5:c.9701T>A MANE Plus Clinical	NP_060360.3:p.Leu3234Gln
NM_152564.5:c.9626T>A MANE Select	NP_689777.3:p.Leu3209Gln