Canonical Allele Identifier: CA4824029

Gene: VPS13B

Linked Data

• ClinVar Variation Id: 783097
• ClinVar RCV Id: RCV000964587
• dbSNP Id: rs746691768
• ExAC: 8:100729508 T / C
• gnomAD v2: 8-100729508-T-C
• gnomAD v3: 8-99717280-T-C
• gnomAD v4: 8-99717280-T-C
• MyVariant Identifiers: chr8:g.100729508T>C (hg19) ; chr8:g.99717280T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99717280T>C , CM000670.2:g.99717280T>C	GRCh38
NC_000008.10:g.100729508T>C , CM000670.1:g.100729508T>C	GRCh37
NC_000008.9:g.100798684T>C	NCBI36
NG_007098.2:g.709015T>C , LRG_351:g.709015T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000682153.1:c.6639T>C	ENSP00000507923.1:p.Asn2213=
ENST00000682358.1:n.6709T>C
ENST00000683334.1:c.*2321T>C	ENSP00000507369.1:n.*2321T>C
ENST00000357162.7:c.6564T>C MANE Select	ENSP00000349685.2:p.Asn2188=
ENST00000358544.7:c.6639T>C MANE Plus Clinical	ENSP00000351346.2:p.Asn2213=
ENST00000357162.6:c.6564T>C	ENSP00000349685.2:p.Asn2188=
ENST00000358544.6:c.6639T>C	ENSP00000351346.2:p.Asn2213=
NM_017890.4:c.6639T>C , LRG_351t1:c.6639T>C	NP_060360.3:p.Asn2213=
NM_152564.4:c.6564T>C , LRG_351t2:c.6564T>C	NP_689777.3:p.Asn2188=
XM_005250800.2:c.6639T>C	XP_005250857.1:p.Asn2213=
XM_005250801.3:c.6639T>C	XP_005250858.1:p.Asn2213=
XM_011516848.1:c.6636T>C	XP_011515150.1:p.Asn2212=
XM_011516849.1:c.6561T>C	XP_011515151.1:p.Asn2187=
XM_011516850.1:c.6261T>C	XP_011515152.1:p.Asn2087=
XM_011516851.1:c.3525T>C	XP_011515153.1:p.Asn1175=
XM_011516852.1:c.3525T>C	XP_011515154.1:p.Asn1175=
XM_011516853.1:c.6639T>C	XP_011515155.1:p.Asn2213=
XM_011516854.1:c.2418T>C	XP_011515156.1:p.Asn806=
XM_005250800.3:c.6639T>C	XP_005250857.1:p.Asn2213=
XM_005250801.5:c.6639T>C	XP_005250858.1:p.Asn2213=
XM_011516848.2:c.6636T>C	XP_011515150.1:p.Asn2212=
XM_011516849.2:c.6561T>C	XP_011515151.1:p.Asn2187=
XM_011516850.2:c.6261T>C	XP_011515152.1:p.Asn2087=
XM_011516851.2:c.3525T>C	XP_011515153.1:p.Asn1175=
XM_011516852.2:c.3525T>C	XP_011515154.1:p.Asn1175=
XM_011516853.2:c.6639T>C	XP_011515155.1:p.Asn2213=
XM_011516854.2:c.2418T>C	XP_011515156.1:p.Asn806=
XM_017013109.1:c.6444T>C	XP_016868598.1:p.Asn2148=
XM_017013111.1:c.3525T>C	XP_016868600.1:p.Asn1175=
XM_017013112.1:c.2196T>C	XP_016868601.1:p.Asn732=
XM_024447074.1:c.5424T>C	XP_024302842.1:p.Asn1808=
NM_017890.5:c.6639T>C MANE Plus Clinical	NP_060360.3:p.Asn2213=
NM_152564.5:c.6564T>C MANE Select	NP_689777.3:p.Asn2188=