Canonical Allele Identifier: CA371872625

Gene: VPS13B

Linked Data

• MyVariant Identifiers: chr8:g.100654289T>G (hg19) ; chr8:g.99642061T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99642061T>G , CM000670.2:g.99642061T>G	GRCh38
NC_000008.10:g.100654289T>G , CM000670.1:g.100654289T>G	GRCh37
NC_000008.9:g.100723465T>G	NCBI36
NG_007098.2:g.633796T>G , LRG_351:g.633796T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682153.1:c.5546T>G	ENSP00000507923.1:p.Met1849Arg
ENST00000682358.1:n.5616T>G
ENST00000683334.1:c.*1228T>G	ENSP00000507369.1:n.*1228T>G
ENST00000357162.7:c.5471T>G MANE Select	ENSP00000349685.2:p.Met1824Arg
ENST00000358544.7:c.5546T>G MANE Plus Clinical	ENSP00000351346.2:p.Met1849Arg
ENST00000357162.6:c.5471T>G	ENSP00000349685.2:p.Met1824Arg
ENST00000358544.6:c.5546T>G	ENSP00000351346.2:p.Met1849Arg
NM_017890.4:c.5546T>G , LRG_351t1:c.5546T>G	NP_060360.3:p.Met1849Arg
NM_152564.4:c.5471T>G , LRG_351t2:c.5471T>G	NP_689777.3:p.Met1824Arg
XM_005250800.2:c.5546T>G	XP_005250857.1:p.Met1849Arg
XM_005250801.3:c.5546T>G	XP_005250858.1:p.Met1849Arg
XM_011516848.1:c.5543T>G	XP_011515150.1:p.Met1848Arg
XM_011516849.1:c.5468T>G	XP_011515151.1:p.Met1823Arg
XM_011516850.1:c.5168T>G	XP_011515152.1:p.Met1723Arg
XM_011516851.1:c.2432T>G	XP_011515153.1:p.Met811Arg
XM_011516852.1:c.2432T>G	XP_011515154.1:p.Met811Arg
XM_011516853.1:c.5546T>G	XP_011515155.1:p.Met1849Arg
XM_011516854.1:c.1325T>G	XP_011515156.1:p.Met442Arg
XM_005250800.3:c.5546T>G	XP_005250857.1:p.Met1849Arg
XM_005250801.5:c.5546T>G	XP_005250858.1:p.Met1849Arg
XM_011516848.2:c.5543T>G	XP_011515150.1:p.Met1848Arg
XM_011516849.2:c.5468T>G	XP_011515151.1:p.Met1823Arg
XM_011516850.2:c.5168T>G	XP_011515152.1:p.Met1723Arg
XM_011516851.2:c.2432T>G	XP_011515153.1:p.Met811Arg
XM_011516852.2:c.2432T>G	XP_011515154.1:p.Met811Arg
XM_011516853.2:c.5546T>G	XP_011515155.1:p.Met1849Arg
XM_011516854.2:c.1325T>G	XP_011515156.1:p.Met442Arg
XM_017013109.1:c.5351T>G	XP_016868598.1:p.Met1784Arg
XM_017013111.1:c.2432T>G	XP_016868600.1:p.Met811Arg
XM_017013112.1:c.1103T>G	XP_016868601.1:p.Met368Arg
XM_024447074.1:c.4331T>G	XP_024302842.1:p.Met1444Arg
XR_001745482.2:n.5507T>G
NM_017890.5:c.5546T>G MANE Plus Clinical	NP_060360.3:p.Met1849Arg
NM_152564.5:c.5471T>G MANE Select	NP_689777.3:p.Met1824Arg