Canonical Allele Identifier: CA4825245

Gene: VPS13B

Linked Data

• dbSNP Id: rs751559241
• ExAC: 8:100883090 C / T
• gnomAD v2: 8-100883090-C-T
• MyVariant Identifiers: chr8:g.100883090C>T (hg19) ; chr8:g.99870862C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99870862C>T , CM000670.2:g.99870862C>T	GRCh38
NC_000008.10:g.100883090C>T , CM000670.1:g.100883090C>T	GRCh37
NC_000008.9:g.100952266C>T	NCBI36
NG_007098.2:g.862597C>T , LRG_351:g.862597C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682153.1:c.*639C>T	ENSP00000507923.1:n.*639C>T
ENST00000682358.1:n.11615C>T
ENST00000683334.1:c.*7227C>T	ENSP00000507369.1:n.*7227C>T
ENST00000357162.7:c.11470C>T MANE Select	ENSP00000349685.2:p.Pro3824Ser
ENST00000358544.7:c.11545C>T MANE Plus Clinical	ENSP00000351346.2:p.Pro3849Ser
ENST00000357162.6:c.11470C>T	ENSP00000349685.2:p.Pro3824Ser
ENST00000358544.6:c.11545C>T	ENSP00000351346.2:p.Pro3849Ser
ENST00000493587.1:n.487C>T
NM_017890.4:c.11545C>T , LRG_351t1:c.11545C>T	NP_060360.3:p.Pro3849Ser
NM_152564.4:c.11470C>T , LRG_351t2:c.11470C>T	NP_689777.3:p.Pro3824Ser
XM_005250800.2:c.11545C>T	XP_005250857.1:p.Pro3849Ser
XM_005250801.3:c.11545C>T	XP_005250858.1:p.Pro3849Ser
XM_011516848.1:c.11542C>T	XP_011515150.1:p.Pro3848Ser
XM_011516849.1:c.11467C>T	XP_011515151.1:p.Pro3823Ser
XM_011516850.1:c.11167C>T	XP_011515152.1:p.Pro3723Ser
XM_011516851.1:c.8431C>T	XP_011515153.1:p.Pro2811Ser
XM_011516852.1:c.8431C>T	XP_011515154.1:p.Pro2811Ser
XM_011516854.1:c.7324C>T	XP_011515156.1:p.Pro2442Ser
XM_005250800.3:c.11545C>T	XP_005250857.1:p.Pro3849Ser
XM_005250801.5:c.11545C>T	XP_005250858.1:p.Pro3849Ser
XM_011516848.2:c.11542C>T	XP_011515150.1:p.Pro3848Ser
XM_011516849.2:c.11467C>T	XP_011515151.1:p.Pro3823Ser
XM_011516850.2:c.11167C>T	XP_011515152.1:p.Pro3723Ser
XM_011516851.2:c.8431C>T	XP_011515153.1:p.Pro2811Ser
XM_011516852.2:c.8431C>T	XP_011515154.1:p.Pro2811Ser
XM_011516854.2:c.7324C>T	XP_011515156.1:p.Pro2442Ser
XM_017013109.1:c.11350C>T	XP_016868598.1:p.Pro3784Ser
XM_017013111.1:c.8431C>T	XP_016868600.1:p.Pro2811Ser
XM_017013112.1:c.7102C>T	XP_016868601.1:p.Pro2368Ser
XM_024447074.1:c.10330C>T	XP_024302842.1:p.Pro3444Ser
NM_017890.5:c.11545C>T MANE Plus Clinical	NP_060360.3:p.Pro3849Ser
NM_152564.5:c.11470C>T MANE Select	NP_689777.3:p.Pro3824Ser