Canonical Allele Identifier: CA371875734

Gene: VPS13B

Linked Data

• dbSNP Id: rs2130668295
• COSMIC: COSM4421061 ; COSM4421062
• MyVariant Identifiers: chr8:g.100789098C>T (hg19) ; chr8:g.99776870C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99776870C>T , CM000670.2:g.99776870C>T	GRCh38
NC_000008.10:g.100789098C>T , CM000670.1:g.100789098C>T	GRCh37
NC_000008.9:g.100858274C>T	NCBI36
NG_007098.2:g.768605C>T , LRG_351:g.768605C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000682153.1:c.7418C>T	ENSP00000507923.1:p.Pro2473Leu
ENST00000682358.1:n.7488C>T
ENST00000683334.1:c.*3100C>T	ENSP00000507369.1:n.*3100C>T
ENST00000357162.7:c.7343C>T MANE Select	ENSP00000349685.2:p.Pro2448Leu
ENST00000358544.7:c.7418C>T MANE Plus Clinical	ENSP00000351346.2:p.Pro2473Leu
ENST00000357162.6:c.7343C>T	ENSP00000349685.2:p.Pro2448Leu
ENST00000358544.6:c.7418C>T	ENSP00000351346.2:p.Pro2473Leu
ENST00000518569.1:n.378-1812C>T
NM_017890.4:c.7418C>T , LRG_351t1:c.7418C>T	NP_060360.3:p.Pro2473Leu
NM_152564.4:c.7343C>T , LRG_351t2:c.7343C>T	NP_689777.3:p.Pro2448Leu
XM_005250800.2:c.7418C>T	XP_005250857.1:p.Pro2473Leu
XM_005250801.3:c.7418C>T	XP_005250858.1:p.Pro2473Leu
XM_011516848.1:c.7415C>T	XP_011515150.1:p.Pro2472Leu
XM_011516849.1:c.7340C>T	XP_011515151.1:p.Pro2447Leu
XM_011516850.1:c.7040C>T	XP_011515152.1:p.Pro2347Leu
XM_011516851.1:c.4304C>T	XP_011515153.1:p.Pro1435Leu
XM_011516852.1:c.4304C>T	XP_011515154.1:p.Pro1435Leu
XM_011516853.1:c.7418C>T	XP_011515155.1:p.Pro2473Leu
XM_011516854.1:c.3197C>T	XP_011515156.1:p.Pro1066Leu
XR_928446.1:n.1830+5608G>A
XM_005250800.3:c.7418C>T	XP_005250857.1:p.Pro2473Leu
XM_005250801.5:c.7418C>T	XP_005250858.1:p.Pro2473Leu
XM_011516848.2:c.7415C>T	XP_011515150.1:p.Pro2472Leu
XM_011516849.2:c.7340C>T	XP_011515151.1:p.Pro2447Leu
XM_011516850.2:c.7040C>T	XP_011515152.1:p.Pro2347Leu
XM_011516851.2:c.4304C>T	XP_011515153.1:p.Pro1435Leu
XM_011516852.2:c.4304C>T	XP_011515154.1:p.Pro1435Leu
XM_011516853.2:c.7418C>T	XP_011515155.1:p.Pro2473Leu
XM_011516854.2:c.3197C>T	XP_011515156.1:p.Pro1066Leu
XM_017013109.1:c.7223C>T	XP_016868598.1:p.Pro2408Leu
XM_017013111.1:c.4304C>T	XP_016868600.1:p.Pro1435Leu
XM_017013112.1:c.2975C>T	XP_016868601.1:p.Pro992Leu
XM_024447074.1:c.6203C>T	XP_024302842.1:p.Pro2068Leu
NM_017890.5:c.7418C>T MANE Plus Clinical	NP_060360.3:p.Pro2473Leu
NM_152564.5:c.7343C>T MANE Select	NP_689777.3:p.Pro2448Leu