Canonical Allele Identifier: CA371873794

Gene: VPS13B

Linked Data

• gnomAD v4: 8-99699539-G-A
• MyVariant Identifiers: chr8:g.100711767G>A (hg19) ; chr8:g.99699539G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99699539G>A , CM000670.2:g.99699539G>A	GRCh38
NC_000008.10:g.100711767G>A , CM000670.1:g.100711767G>A	GRCh37
NC_000008.9:g.100780943G>A	NCBI36
NG_007098.2:g.691274G>A , LRG_351:g.691274G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682153.1:c.6136G>A	ENSP00000507923.1:p.Asp2046Asn
ENST00000682358.1:n.6206G>A
ENST00000683334.1:c.*1818G>A	ENSP00000507369.1:n.*1818G>A
ENST00000357162.7:c.6061G>A MANE Select	ENSP00000349685.2:p.Asp2021Asn
ENST00000358544.7:c.6136G>A MANE Plus Clinical	ENSP00000351346.2:p.Asp2046Asn
ENST00000357162.6:c.6061G>A	ENSP00000349685.2:p.Asp2021Asn
ENST00000358544.6:c.6136G>A	ENSP00000351346.2:p.Asp2046Asn
NM_017890.4:c.6136G>A , LRG_351t1:c.6136G>A	NP_060360.3:p.Asp2046Asn
NM_152564.4:c.6061G>A , LRG_351t2:c.6061G>A	NP_689777.3:p.Asp2021Asn
XM_005250800.2:c.6136G>A	XP_005250857.1:p.Asp2046Asn
XM_005250801.3:c.6136G>A	XP_005250858.1:p.Asp2046Asn
XM_011516848.1:c.6133G>A	XP_011515150.1:p.Asp2045Asn
XM_011516849.1:c.6058G>A	XP_011515151.1:p.Asp2020Asn
XM_011516850.1:c.5758G>A	XP_011515152.1:p.Asp1920Asn
XM_011516851.1:c.3022G>A	XP_011515153.1:p.Asp1008Asn
XM_011516852.1:c.3022G>A	XP_011515154.1:p.Asp1008Asn
XM_011516853.1:c.6136G>A	XP_011515155.1:p.Asp2046Asn
XM_011516854.1:c.1915G>A	XP_011515156.1:p.Asp639Asn
XM_005250800.3:c.6136G>A	XP_005250857.1:p.Asp2046Asn
XM_005250801.5:c.6136G>A	XP_005250858.1:p.Asp2046Asn
XM_011516848.2:c.6133G>A	XP_011515150.1:p.Asp2045Asn
XM_011516849.2:c.6058G>A	XP_011515151.1:p.Asp2020Asn
XM_011516850.2:c.5758G>A	XP_011515152.1:p.Asp1920Asn
XM_011516851.2:c.3022G>A	XP_011515153.1:p.Asp1008Asn
XM_011516852.2:c.3022G>A	XP_011515154.1:p.Asp1008Asn
XM_011516853.2:c.6136G>A	XP_011515155.1:p.Asp2046Asn
XM_011516854.2:c.1915G>A	XP_011515156.1:p.Asp639Asn
XM_017013109.1:c.5941G>A	XP_016868598.1:p.Asp1981Asn
XM_017013111.1:c.3022G>A	XP_016868600.1:p.Asp1008Asn
XM_017013112.1:c.1693G>A	XP_016868601.1:p.Asp565Asn
XM_024447074.1:c.4921G>A	XP_024302842.1:p.Asp1641Asn
XR_001745482.2:n.6097G>A
NM_017890.5:c.6136G>A MANE Plus Clinical	NP_060360.3:p.Asp2046Asn
NM_152564.5:c.6061G>A MANE Select	NP_689777.3:p.Asp2021Asn