Canonical Allele Identifier: CA371873954

Gene: VPS13B

Linked Data

• dbSNP Id: rs1321040370
• gnomAD v3: 8-99699564-A-C
• gnomAD v4: 8-99699564-A-C
• MyVariant Identifiers: chr8:g.100711792A>C (hg19) ; chr8:g.99699564A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99699564A>C , CM000670.2:g.99699564A>C	GRCh38
NC_000008.10:g.100711792A>C , CM000670.1:g.100711792A>C	GRCh37
NC_000008.9:g.100780968A>C	NCBI36
NG_007098.2:g.691299A>C , LRG_351:g.691299A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682153.1:c.6161A>C	ENSP00000507923.1:p.Asn2054Thr
ENST00000682358.1:n.6231A>C
ENST00000683334.1:c.*1843A>C	ENSP00000507369.1:n.*1843A>C
ENST00000357162.7:c.6086A>C MANE Select	ENSP00000349685.2:p.Asn2029Thr
ENST00000358544.7:c.6161A>C MANE Plus Clinical	ENSP00000351346.2:p.Asn2054Thr
ENST00000357162.6:c.6086A>C	ENSP00000349685.2:p.Asn2029Thr
ENST00000358544.6:c.6161A>C	ENSP00000351346.2:p.Asn2054Thr
NM_017890.4:c.6161A>C , LRG_351t1:c.6161A>C	NP_060360.3:p.Asn2054Thr
NM_152564.4:c.6086A>C , LRG_351t2:c.6086A>C	NP_689777.3:p.Asn2029Thr
XM_005250800.2:c.6161A>C	XP_005250857.1:p.Asn2054Thr
XM_005250801.3:c.6161A>C	XP_005250858.1:p.Asn2054Thr
XM_011516848.1:c.6158A>C	XP_011515150.1:p.Asn2053Thr
XM_011516849.1:c.6083A>C	XP_011515151.1:p.Asn2028Thr
XM_011516850.1:c.5783A>C	XP_011515152.1:p.Asn1928Thr
XM_011516851.1:c.3047A>C	XP_011515153.1:p.Asn1016Thr
XM_011516852.1:c.3047A>C	XP_011515154.1:p.Asn1016Thr
XM_011516853.1:c.6161A>C	XP_011515155.1:p.Asn2054Thr
XM_011516854.1:c.1940A>C	XP_011515156.1:p.Asn647Thr
XM_005250800.3:c.6161A>C	XP_005250857.1:p.Asn2054Thr
XM_005250801.5:c.6161A>C	XP_005250858.1:p.Asn2054Thr
XM_011516848.2:c.6158A>C	XP_011515150.1:p.Asn2053Thr
XM_011516849.2:c.6083A>C	XP_011515151.1:p.Asn2028Thr
XM_011516850.2:c.5783A>C	XP_011515152.1:p.Asn1928Thr
XM_011516851.2:c.3047A>C	XP_011515153.1:p.Asn1016Thr
XM_011516852.2:c.3047A>C	XP_011515154.1:p.Asn1016Thr
XM_011516853.2:c.6161A>C	XP_011515155.1:p.Asn2054Thr
XM_011516854.2:c.1940A>C	XP_011515156.1:p.Asn647Thr
XM_017013109.1:c.5966A>C	XP_016868598.1:p.Asn1989Thr
XM_017013111.1:c.3047A>C	XP_016868600.1:p.Asn1016Thr
XM_017013112.1:c.1718A>C	XP_016868601.1:p.Asn573Thr
XM_024447074.1:c.4946A>C	XP_024302842.1:p.Asn1649Thr
NM_017890.5:c.6161A>C MANE Plus Clinical	NP_060360.3:p.Asn2054Thr
NM_152564.5:c.6086A>C MANE Select	NP_689777.3:p.Asn2029Thr