Canonical Allele Identifier: CA371872509

Gene: VPS13B

Linked Data

• MyVariant Identifiers: chr8:g.100654238T>A (hg19) ; chr8:g.99642010T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99642010T>A , CM000670.2:g.99642010T>A	GRCh38
NC_000008.10:g.100654238T>A , CM000670.1:g.100654238T>A	GRCh37
NC_000008.9:g.100723414T>A	NCBI36
NG_007098.2:g.633745T>A , LRG_351:g.633745T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682153.1:c.5495T>A	ENSP00000507923.1:p.Leu1832Gln
ENST00000682358.1:n.5565T>A
ENST00000683334.1:c.*1177T>A	ENSP00000507369.1:n.*1177T>A
ENST00000357162.7:c.5420T>A MANE Select	ENSP00000349685.2:p.Leu1807Gln
ENST00000358544.7:c.5495T>A MANE Plus Clinical	ENSP00000351346.2:p.Leu1832Gln
ENST00000357162.6:c.5420T>A	ENSP00000349685.2:p.Leu1807Gln
ENST00000358544.6:c.5495T>A	ENSP00000351346.2:p.Leu1832Gln
NM_017890.4:c.5495T>A , LRG_351t1:c.5495T>A	NP_060360.3:p.Leu1832Gln
NM_152564.4:c.5420T>A , LRG_351t2:c.5420T>A	NP_689777.3:p.Leu1807Gln
XM_005250800.2:c.5495T>A	XP_005250857.1:p.Leu1832Gln
XM_005250801.3:c.5495T>A	XP_005250858.1:p.Leu1832Gln
XM_011516848.1:c.5492T>A	XP_011515150.1:p.Leu1831Gln
XM_011516849.1:c.5417T>A	XP_011515151.1:p.Leu1806Gln
XM_011516850.1:c.5117T>A	XP_011515152.1:p.Leu1706Gln
XM_011516851.1:c.2381T>A	XP_011515153.1:p.Leu794Gln
XM_011516852.1:c.2381T>A	XP_011515154.1:p.Leu794Gln
XM_011516853.1:c.5495T>A	XP_011515155.1:p.Leu1832Gln
XM_011516854.1:c.1274T>A	XP_011515156.1:p.Leu425Gln
XM_005250800.3:c.5495T>A	XP_005250857.1:p.Leu1832Gln
XM_005250801.5:c.5495T>A	XP_005250858.1:p.Leu1832Gln
XM_011516848.2:c.5492T>A	XP_011515150.1:p.Leu1831Gln
XM_011516849.2:c.5417T>A	XP_011515151.1:p.Leu1806Gln
XM_011516850.2:c.5117T>A	XP_011515152.1:p.Leu1706Gln
XM_011516851.2:c.2381T>A	XP_011515153.1:p.Leu794Gln
XM_011516852.2:c.2381T>A	XP_011515154.1:p.Leu794Gln
XM_011516853.2:c.5495T>A	XP_011515155.1:p.Leu1832Gln
XM_011516854.2:c.1274T>A	XP_011515156.1:p.Leu425Gln
XM_017013109.1:c.5300T>A	XP_016868598.1:p.Leu1767Gln
XM_017013111.1:c.2381T>A	XP_016868600.1:p.Leu794Gln
XM_017013112.1:c.1052T>A	XP_016868601.1:p.Leu351Gln
XM_024447074.1:c.4280T>A	XP_024302842.1:p.Leu1427Gln
XR_001745482.2:n.5456T>A
NM_017890.5:c.5495T>A MANE Plus Clinical	NP_060360.3:p.Leu1832Gln
NM_152564.5:c.5420T>A MANE Select	NP_689777.3:p.Leu1807Gln