Canonical Allele Identifier: CA371873765

Gene: VPS13B

Linked Data

• MyVariant Identifiers: chr8:g.100711762A>C (hg19) ; chr8:g.99699534A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99699534A>C , CM000670.2:g.99699534A>C	GRCh38
NC_000008.10:g.100711762A>C , CM000670.1:g.100711762A>C	GRCh37
NC_000008.9:g.100780938A>C	NCBI36
NG_007098.2:g.691269A>C , LRG_351:g.691269A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682153.1:c.6131A>C	ENSP00000507923.1:p.Asn2044Thr
ENST00000682358.1:n.6201A>C
ENST00000683334.1:c.*1813A>C	ENSP00000507369.1:n.*1813A>C
ENST00000357162.7:c.6056A>C MANE Select	ENSP00000349685.2:p.Asn2019Thr
ENST00000358544.7:c.6131A>C MANE Plus Clinical	ENSP00000351346.2:p.Asn2044Thr
ENST00000357162.6:c.6056A>C	ENSP00000349685.2:p.Asn2019Thr
ENST00000358544.6:c.6131A>C	ENSP00000351346.2:p.Asn2044Thr
NM_017890.4:c.6131A>C , LRG_351t1:c.6131A>C	NP_060360.3:p.Asn2044Thr
NM_152564.4:c.6056A>C , LRG_351t2:c.6056A>C	NP_689777.3:p.Asn2019Thr
XM_005250800.2:c.6131A>C	XP_005250857.1:p.Asn2044Thr
XM_005250801.3:c.6131A>C	XP_005250858.1:p.Asn2044Thr
XM_011516848.1:c.6128A>C	XP_011515150.1:p.Asn2043Thr
XM_011516849.1:c.6053A>C	XP_011515151.1:p.Asn2018Thr
XM_011516850.1:c.5753A>C	XP_011515152.1:p.Asn1918Thr
XM_011516851.1:c.3017A>C	XP_011515153.1:p.Asn1006Thr
XM_011516852.1:c.3017A>C	XP_011515154.1:p.Asn1006Thr
XM_011516853.1:c.6131A>C	XP_011515155.1:p.Asn2044Thr
XM_011516854.1:c.1910A>C	XP_011515156.1:p.Asn637Thr
XM_005250800.3:c.6131A>C	XP_005250857.1:p.Asn2044Thr
XM_005250801.5:c.6131A>C	XP_005250858.1:p.Asn2044Thr
XM_011516848.2:c.6128A>C	XP_011515150.1:p.Asn2043Thr
XM_011516849.2:c.6053A>C	XP_011515151.1:p.Asn2018Thr
XM_011516850.2:c.5753A>C	XP_011515152.1:p.Asn1918Thr
XM_011516851.2:c.3017A>C	XP_011515153.1:p.Asn1006Thr
XM_011516852.2:c.3017A>C	XP_011515154.1:p.Asn1006Thr
XM_011516853.2:c.6131A>C	XP_011515155.1:p.Asn2044Thr
XM_011516854.2:c.1910A>C	XP_011515156.1:p.Asn637Thr
XM_017013109.1:c.5936A>C	XP_016868598.1:p.Asn1979Thr
XM_017013111.1:c.3017A>C	XP_016868600.1:p.Asn1006Thr
XM_017013112.1:c.1688A>C	XP_016868601.1:p.Asn563Thr
XM_024447074.1:c.4916A>C	XP_024302842.1:p.Asn1639Thr
XR_001745482.2:n.6092A>C
NM_017890.5:c.6131A>C MANE Plus Clinical	NP_060360.3:p.Asn2044Thr
NM_152564.5:c.6056A>C MANE Select	NP_689777.3:p.Asn2019Thr