Canonical Allele Identifier: CA462339684

Gene: VPS13B

Linked Data

• MyVariant Identifiers: chr8:g.100883068T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99870840T>C , CM000670.2:g.99870840T>C	GRCh38
NC_000008.10:g.100883068T>C , CM000670.1:g.100883068T>C	GRCh37
NC_000008.9:g.100952244T>C	NCBI36
NG_007098.2:g.862575T>C , LRG_351:g.862575T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682153.1:c.*617T>C	ENSP00000507923.1:n.*617T>C
ENST00000682358.1:n.11593T>C
ENST00000683334.1:c.*7205T>C	ENSP00000507369.1:n.*7205T>C
ENST00000357162.7:c.11448T>C MANE Select	ENSP00000349685.2:p.Ser3816=
ENST00000358544.7:c.11523T>C MANE Plus Clinical	ENSP00000351346.2:p.Ser3841=
ENST00000357162.6:c.11448T>C	ENSP00000349685.2:p.Ser3816=
ENST00000358544.6:c.11523T>C	ENSP00000351346.2:p.Ser3841=
ENST00000493587.1:n.465T>C
NM_017890.4:c.11523T>C , LRG_351t1:c.11523T>C	NP_060360.3:p.Ser3841=
NM_152564.4:c.11448T>C , LRG_351t2:c.11448T>C	NP_689777.3:p.Ser3816=
XM_005250800.2:c.11523T>C	XP_005250857.1:p.Ser3841=
XM_005250801.3:c.11523T>C	XP_005250858.1:p.Ser3841=
XM_011516848.1:c.11520T>C	XP_011515150.1:p.Ser3840=
XM_011516849.1:c.11445T>C	XP_011515151.1:p.Ser3815=
XM_011516850.1:c.11145T>C	XP_011515152.1:p.Ser3715=
XM_011516851.1:c.8409T>C	XP_011515153.1:p.Ser2803=
XM_011516852.1:c.8409T>C	XP_011515154.1:p.Ser2803=
XM_011516854.1:c.7302T>C	XP_011515156.1:p.Ser2434=
XM_005250800.3:c.11523T>C	XP_005250857.1:p.Ser3841=
XM_005250801.5:c.11523T>C	XP_005250858.1:p.Ser3841=
XM_011516848.2:c.11520T>C	XP_011515150.1:p.Ser3840=
XM_011516849.2:c.11445T>C	XP_011515151.1:p.Ser3815=
XM_011516850.2:c.11145T>C	XP_011515152.1:p.Ser3715=
XM_011516851.2:c.8409T>C	XP_011515153.1:p.Ser2803=
XM_011516852.2:c.8409T>C	XP_011515154.1:p.Ser2803=
XM_011516854.2:c.7302T>C	XP_011515156.1:p.Ser2434=
XM_017013109.1:c.11328T>C	XP_016868598.1:p.Ser3776=
XM_017013111.1:c.8409T>C	XP_016868600.1:p.Ser2803=
XM_017013112.1:c.7080T>C	XP_016868601.1:p.Ser2360=
XM_024447074.1:c.10308T>C	XP_024302842.1:p.Ser3436=
NM_017890.5:c.11523T>C MANE Plus Clinical	NP_060360.3:p.Ser3841=
NM_152564.5:c.11448T>C MANE Select	NP_689777.3:p.Ser3816=