Canonical Allele Identifier: CA183041714

Gene: VPS13B

Linked Data

• dbSNP Id: rs868701078
• MyVariant Identifiers: chr8:g.100789052C>T (hg19) ; chr8:g.99776824C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99776824C>T , CM000670.2:g.99776824C>T	GRCh38
NC_000008.10:g.100789052C>T , CM000670.1:g.100789052C>T	GRCh37
NC_000008.9:g.100858228C>T	NCBI36
NG_007098.2:g.768559C>T , LRG_351:g.768559C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682153.1:c.7372C>T	ENSP00000507923.1:p.Pro2458Ser
ENST00000682358.1:n.7442C>T
ENST00000683334.1:c.*3054C>T	ENSP00000507369.1:n.*3054C>T
ENST00000357162.7:c.7297C>T MANE Select	ENSP00000349685.2:p.Pro2433Ser
ENST00000358544.7:c.7372C>T MANE Plus Clinical	ENSP00000351346.2:p.Pro2458Ser
ENST00000357162.6:c.7297C>T	ENSP00000349685.2:p.Pro2433Ser
ENST00000358544.6:c.7372C>T	ENSP00000351346.2:p.Pro2458Ser
ENST00000518569.1:n.378-1858C>T
NM_017890.4:c.7372C>T , LRG_351t1:c.7372C>T	NP_060360.3:p.Pro2458Ser
NM_152564.4:c.7297C>T , LRG_351t2:c.7297C>T	NP_689777.3:p.Pro2433Ser
XM_005250800.2:c.7372C>T	XP_005250857.1:p.Pro2458Ser
XM_005250801.3:c.7372C>T	XP_005250858.1:p.Pro2458Ser
XM_011516848.1:c.7369C>T	XP_011515150.1:p.Pro2457Ser
XM_011516849.1:c.7294C>T	XP_011515151.1:p.Pro2432Ser
XM_011516850.1:c.6994C>T	XP_011515152.1:p.Pro2332Ser
XM_011516851.1:c.4258C>T	XP_011515153.1:p.Pro1420Ser
XM_011516852.1:c.4258C>T	XP_011515154.1:p.Pro1420Ser
XM_011516853.1:c.7372C>T	XP_011515155.1:p.Pro2458Ser
XM_011516854.1:c.3151C>T	XP_011515156.1:p.Pro1051Ser
XR_928446.1:n.1830+5654G>A
XM_005250800.3:c.7372C>T	XP_005250857.1:p.Pro2458Ser
XM_005250801.5:c.7372C>T	XP_005250858.1:p.Pro2458Ser
XM_011516848.2:c.7369C>T	XP_011515150.1:p.Pro2457Ser
XM_011516849.2:c.7294C>T	XP_011515151.1:p.Pro2432Ser
XM_011516850.2:c.6994C>T	XP_011515152.1:p.Pro2332Ser
XM_011516851.2:c.4258C>T	XP_011515153.1:p.Pro1420Ser
XM_011516852.2:c.4258C>T	XP_011515154.1:p.Pro1420Ser
XM_011516853.2:c.7372C>T	XP_011515155.1:p.Pro2458Ser
XM_011516854.2:c.3151C>T	XP_011515156.1:p.Pro1051Ser
XM_017013109.1:c.7177C>T	XP_016868598.1:p.Pro2393Ser
XM_017013111.1:c.4258C>T	XP_016868600.1:p.Pro1420Ser
XM_017013112.1:c.2929C>T	XP_016868601.1:p.Pro977Ser
XM_024447074.1:c.6157C>T	XP_024302842.1:p.Pro2053Ser
NM_017890.5:c.7372C>T MANE Plus Clinical	NP_060360.3:p.Pro2458Ser
NM_152564.5:c.7297C>T MANE Select	NP_689777.3:p.Pro2433Ser