Canonical Allele Identifier: CA264087

Gene: VPS13B

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99521012T>C , CM000670.2:g.99521012T>C	GRCh38
NC_000008.10:g.100533240T>C , CM000670.1:g.100533240T>C	GRCh37
NC_000008.9:g.100602416T>C	NCBI36
NG_007098.2:g.512747T>C , LRG_351:g.512747T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_152564.5:c.4745+2T>C MANE Select	NP_689777.3:n.4745+2T>C
ENST00000357162.7:c.4745+2T>C MANE Select	ENSP00000349685.2:n.4745+2T>C
NM_017890.5:c.4820+2T>C MANE Plus Clinical	NP_060360.3:n.4820+2T>C
ENST00000358544.7:c.4820+2T>C MANE Plus Clinical	ENSP00000351346.2:n.4820+2T>C
NM_017890.4:c.4820+2T>C , LRG_351t1:c.4820+2T>C	NP_060360.3:n.4820+2T>C
NM_152564.4:c.4745+2T>C , LRG_351t2:c.4745+2T>C	NP_689777.3:n.4745+2T>C
ENST00000357162.6:c.4745+2T>C	ENSP00000349685.2:n.4745+2T>C
ENST00000358544.6:c.4820+2T>C	ENSP00000351346.2:n.4820+2T>C
ENST00000496144.5:c.*603+2T>C	ENSP00000430900.1:n.*603+2T>C
ENST00000521559.1:c.112+2T>C
ENST00000682153.1:c.4820+2T>C	ENSP00000507923.1:n.4820+2T>C
ENST00000682358.1:n.4890+2T>C
ENST00000683334.1:c.*502+2T>C	ENSP00000507369.1:n.*502+2T>C
XM_005250800.2:c.4820+2T>C	XP_005250857.1:n.4820+2T>C
XM_005250800.3:c.4820+2T>C	XP_005250857.1:n.4820+2T>C
XM_005250801.3:c.4820+2T>C	XP_005250858.1:n.4820+2T>C
XM_005250801.5:c.4820+2T>C	XP_005250858.1:n.4820+2T>C
XM_006716510.2:c.4820+2T>C	XP_006716573.1:n.4820+2T>C
XM_006716510.3:c.4820+2T>C	XP_006716573.1:n.4820+2T>C
XM_011516848.1:c.4817+2T>C	XP_011515150.1:n.4817+2T>C
XM_011516848.2:c.4817+2T>C	XP_011515150.1:n.4817+2T>C
XM_011516849.1:c.4742+2T>C	XP_011515151.1:n.4742+2T>C
XM_011516849.2:c.4742+2T>C	XP_011515151.1:n.4742+2T>C
XM_011516850.1:c.4442+2T>C	XP_011515152.1:n.4442+2T>C
XM_011516850.2:c.4442+2T>C	XP_011515152.1:n.4442+2T>C
XM_011516851.1:c.1706+2T>C	XP_011515153.1:n.1706+2T>C
XM_011516851.2:c.1706+2T>C	XP_011515153.1:n.1706+2T>C
XM_011516852.1:c.1706+2T>C	XP_011515154.1:n.1706+2T>C
XM_011516852.2:c.1706+2T>C	XP_011515154.1:n.1706+2T>C
XM_011516853.1:c.4820+2T>C	XP_011515155.1:n.4820+2T>C
XM_011516853.2:c.4820+2T>C	XP_011515155.1:n.4820+2T>C
XM_011516854.1:c.599+2T>C	XP_011515156.1:n.599+2T>C
XM_011516854.2:c.599+2T>C	XP_011515156.1:n.599+2T>C
XM_017013109.1:c.4625+2T>C	XP_016868598.1:n.4625+2T>C
XM_017013111.1:c.1706+2T>C	XP_016868600.1:n.1706+2T>C
XM_017013112.1:c.377+2T>C	XP_016868601.1:n.377+2T>C
XM_024447074.1:c.3605+2T>C	XP_024302842.1:n.3605+2T>C
XR_001745482.2:n.4781+2T>C
XR_928301.1:n.4923+2T>C
XR_928302.1:n.4923+2T>C
XR_928302.2:n.4923+2T>C
XR_928303.1:n.4923+2T>C
XR_928304.1:n.4990+2T>C