Canonical Allele Identifier: CA462449131

Gene: VPS13B

Linked Data

• MyVariant Identifiers: chr8:g.100789006T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99776778T>C , CM000670.2:g.99776778T>C	GRCh38
NC_000008.10:g.100789006T>C , CM000670.1:g.100789006T>C	GRCh37
NC_000008.9:g.100858182T>C	NCBI36
NG_007098.2:g.768513T>C , LRG_351:g.768513T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000682153.1:c.7326T>C	ENSP00000507923.1:p.Ser2442=
ENST00000682358.1:n.7396T>C
ENST00000683334.1:c.*3008T>C	ENSP00000507369.1:n.*3008T>C
ENST00000357162.7:c.7251T>C MANE Select	ENSP00000349685.2:p.Ser2417=
ENST00000358544.7:c.7326T>C MANE Plus Clinical	ENSP00000351346.2:p.Ser2442=
ENST00000357162.6:c.7251T>C	ENSP00000349685.2:p.Ser2417=
ENST00000358544.6:c.7326T>C	ENSP00000351346.2:p.Ser2442=
ENST00000518569.1:n.378-1904T>C
NM_017890.4:c.7326T>C , LRG_351t1:c.7326T>C	NP_060360.3:p.Ser2442=
NM_152564.4:c.7251T>C , LRG_351t2:c.7251T>C	NP_689777.3:p.Ser2417=
XM_005250800.2:c.7326T>C	XP_005250857.1:p.Ser2442=
XM_005250801.3:c.7326T>C	XP_005250858.1:p.Ser2442=
XM_011516848.1:c.7323T>C	XP_011515150.1:p.Ser2441=
XM_011516849.1:c.7248T>C	XP_011515151.1:p.Ser2416=
XM_011516850.1:c.6948T>C	XP_011515152.1:p.Ser2316=
XM_011516851.1:c.4212T>C	XP_011515153.1:p.Ser1404=
XM_011516852.1:c.4212T>C	XP_011515154.1:p.Ser1404=
XM_011516853.1:c.7326T>C	XP_011515155.1:p.Ser2442=
XM_011516854.1:c.3105T>C	XP_011515156.1:p.Ser1035=
XR_928446.1:n.1830+5700A>G
XM_005250800.3:c.7326T>C	XP_005250857.1:p.Ser2442=
XM_005250801.5:c.7326T>C	XP_005250858.1:p.Ser2442=
XM_011516848.2:c.7323T>C	XP_011515150.1:p.Ser2441=
XM_011516849.2:c.7248T>C	XP_011515151.1:p.Ser2416=
XM_011516850.2:c.6948T>C	XP_011515152.1:p.Ser2316=
XM_011516851.2:c.4212T>C	XP_011515153.1:p.Ser1404=
XM_011516852.2:c.4212T>C	XP_011515154.1:p.Ser1404=
XM_011516853.2:c.7326T>C	XP_011515155.1:p.Ser2442=
XM_011516854.2:c.3105T>C	XP_011515156.1:p.Ser1035=
XM_017013109.1:c.7131T>C	XP_016868598.1:p.Ser2377=
XM_017013111.1:c.4212T>C	XP_016868600.1:p.Ser1404=
XM_017013112.1:c.2883T>C	XP_016868601.1:p.Ser961=
XM_024447074.1:c.6111T>C	XP_024302842.1:p.Ser2037=
NM_017890.5:c.7326T>C MANE Plus Clinical	NP_060360.3:p.Ser2442=
NM_152564.5:c.7251T>C MANE Select	NP_689777.3:p.Ser2417=