Canonical Allele Identifier: CA371867494

Gene: VPS13B

Linked Data

• MyVariant Identifiers: chr8:g.100729594T>G (hg19) ; chr8:g.99717366T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99717366T>G , CM000670.2:g.99717366T>G	GRCh38
NC_000008.10:g.100729594T>G , CM000670.1:g.100729594T>G	GRCh37
NC_000008.9:g.100798770T>G	NCBI36
NG_007098.2:g.709101T>G , LRG_351:g.709101T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682153.1:c.6725T>G	ENSP00000507923.1:p.Leu2242Arg
ENST00000682358.1:n.6795T>G
ENST00000683334.1:c.*2407T>G	ENSP00000507369.1:n.*2407T>G
ENST00000357162.7:c.6650T>G MANE Select	ENSP00000349685.2:p.Leu2217Arg
ENST00000358544.7:c.6725T>G MANE Plus Clinical	ENSP00000351346.2:p.Leu2242Arg
ENST00000357162.6:c.6650T>G	ENSP00000349685.2:p.Leu2217Arg
ENST00000358544.6:c.6725T>G	ENSP00000351346.2:p.Leu2242Arg
NM_017890.4:c.6725T>G , LRG_351t1:c.6725T>G	NP_060360.3:p.Leu2242Arg
NM_152564.4:c.6650T>G , LRG_351t2:c.6650T>G	NP_689777.3:p.Leu2217Arg
XM_005250800.2:c.6725T>G	XP_005250857.1:p.Leu2242Arg
XM_005250801.3:c.6725T>G	XP_005250858.1:p.Leu2242Arg
XM_011516848.1:c.6722T>G	XP_011515150.1:p.Leu2241Arg
XM_011516849.1:c.6647T>G	XP_011515151.1:p.Leu2216Arg
XM_011516850.1:c.6347T>G	XP_011515152.1:p.Leu2116Arg
XM_011516851.1:c.3611T>G	XP_011515153.1:p.Leu1204Arg
XM_011516852.1:c.3611T>G	XP_011515154.1:p.Leu1204Arg
XM_011516853.1:c.6725T>G	XP_011515155.1:p.Leu2242Arg
XM_011516854.1:c.2504T>G	XP_011515156.1:p.Leu835Arg
XM_005250800.3:c.6725T>G	XP_005250857.1:p.Leu2242Arg
XM_005250801.5:c.6725T>G	XP_005250858.1:p.Leu2242Arg
XM_011516848.2:c.6722T>G	XP_011515150.1:p.Leu2241Arg
XM_011516849.2:c.6647T>G	XP_011515151.1:p.Leu2216Arg
XM_011516850.2:c.6347T>G	XP_011515152.1:p.Leu2116Arg
XM_011516851.2:c.3611T>G	XP_011515153.1:p.Leu1204Arg
XM_011516852.2:c.3611T>G	XP_011515154.1:p.Leu1204Arg
XM_011516853.2:c.6725T>G	XP_011515155.1:p.Leu2242Arg
XM_011516854.2:c.2504T>G	XP_011515156.1:p.Leu835Arg
XM_017013109.1:c.6530T>G	XP_016868598.1:p.Leu2177Arg
XM_017013111.1:c.3611T>G	XP_016868600.1:p.Leu1204Arg
XM_017013112.1:c.2282T>G	XP_016868601.1:p.Leu761Arg
XM_024447074.1:c.5510T>G	XP_024302842.1:p.Leu1837Arg
NM_017890.5:c.6725T>G MANE Plus Clinical	NP_060360.3:p.Leu2242Arg
NM_152564.5:c.6650T>G MANE Select	NP_689777.3:p.Leu2217Arg