Canonical Allele Identifier: CA462448991

Gene: VPS13B

Linked Data

• dbSNP Id: rs1172042395
• gnomAD v2: 8-100779134-T-C
• gnomAD v4: 8-99766906-T-C
• MyVariant Identifiers: chr8:g.100779134T>C (hg19) ; chr8:g.99766906T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99766906T>C , CM000670.2:g.99766906T>C	GRCh38
NC_000008.10:g.100779134T>C , CM000670.1:g.100779134T>C	GRCh37
NC_000008.9:g.100848310T>C	NCBI36
NG_007098.2:g.758641T>C , LRG_351:g.758641T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000682153.1:c.7258T>C	ENSP00000507923.1:p.Leu2420=
ENST00000682358.1:n.7328T>C
ENST00000683334.1:c.*2940T>C	ENSP00000507369.1:n.*2940T>C
ENST00000357162.7:c.7183T>C MANE Select	ENSP00000349685.2:p.Leu2395=
ENST00000358544.7:c.7258T>C MANE Plus Clinical	ENSP00000351346.2:p.Leu2420=
ENST00000357162.6:c.7183T>C	ENSP00000349685.2:p.Leu2395=
ENST00000358544.6:c.7258T>C	ENSP00000351346.2:p.Leu2420=
ENST00000518569.1:n.313T>C
NM_017890.4:c.7258T>C , LRG_351t1:c.7258T>C	NP_060360.3:p.Leu2420=
NM_152564.4:c.7183T>C , LRG_351t2:c.7183T>C	NP_689777.3:p.Leu2395=
XM_005250800.2:c.7258T>C	XP_005250857.1:p.Leu2420=
XM_005250801.3:c.7258T>C	XP_005250858.1:p.Leu2420=
XM_011516848.1:c.7255T>C	XP_011515150.1:p.Leu2419=
XM_011516849.1:c.7180T>C	XP_011515151.1:p.Leu2394=
XM_011516850.1:c.6880T>C	XP_011515152.1:p.Leu2294=
XM_011516851.1:c.4144T>C	XP_011515153.1:p.Leu1382=
XM_011516852.1:c.4144T>C	XP_011515154.1:p.Leu1382=
XM_011516853.1:c.7258T>C	XP_011515155.1:p.Leu2420=
XM_011516854.1:c.3037T>C	XP_011515156.1:p.Leu1013=
XR_928446.1:n.2065+3782A>G
XM_005250800.3:c.7258T>C	XP_005250857.1:p.Leu2420=
XM_005250801.5:c.7258T>C	XP_005250858.1:p.Leu2420=
XM_011516848.2:c.7255T>C	XP_011515150.1:p.Leu2419=
XM_011516849.2:c.7180T>C	XP_011515151.1:p.Leu2394=
XM_011516850.2:c.6880T>C	XP_011515152.1:p.Leu2294=
XM_011516851.2:c.4144T>C	XP_011515153.1:p.Leu1382=
XM_011516852.2:c.4144T>C	XP_011515154.1:p.Leu1382=
XM_011516853.2:c.7258T>C	XP_011515155.1:p.Leu2420=
XM_011516854.2:c.3037T>C	XP_011515156.1:p.Leu1013=
XM_017013109.1:c.7063T>C	XP_016868598.1:p.Leu2355=
XM_017013111.1:c.4144T>C	XP_016868600.1:p.Leu1382=
XM_017013112.1:c.2815T>C	XP_016868601.1:p.Leu939=
XM_024447074.1:c.6043T>C	XP_024302842.1:p.Leu2015=
NM_017890.5:c.7258T>C MANE Plus Clinical	NP_060360.3:p.Leu2420=
NM_152564.5:c.7183T>C MANE Select	NP_689777.3:p.Leu2395=