Canonical Allele Identifier: CA462440861

Gene: VPS13B

Linked Data

• MyVariant Identifiers: chr8:g.100732758A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99720530A>C , CM000670.2:g.99720530A>C	GRCh38
NC_000008.10:g.100732758A>C , CM000670.1:g.100732758A>C	GRCh37
NC_000008.9:g.100801934A>C	NCBI36
NG_007098.2:g.712265A>C , LRG_351:g.712265A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000682153.1:c.6918A>C	ENSP00000507923.1:p.Leu2306=
ENST00000682358.1:n.6988A>C
ENST00000683334.1:c.*2600A>C	ENSP00000507369.1:n.*2600A>C
ENST00000357162.7:c.6843A>C MANE Select	ENSP00000349685.2:p.Leu2281=
ENST00000358544.7:c.6918A>C MANE Plus Clinical	ENSP00000351346.2:p.Leu2306=
ENST00000357162.6:c.6843A>C	ENSP00000349685.2:p.Leu2281=
ENST00000358544.6:c.6918A>C	ENSP00000351346.2:p.Leu2306=
NM_017890.4:c.6918A>C , LRG_351t1:c.6918A>C	NP_060360.3:p.Leu2306=
NM_152564.4:c.6843A>C , LRG_351t2:c.6843A>C	NP_689777.3:p.Leu2281=
XM_005250800.2:c.6918A>C	XP_005250857.1:p.Leu2306=
XM_005250801.3:c.6918A>C	XP_005250858.1:p.Leu2306=
XM_011516848.1:c.6915A>C	XP_011515150.1:p.Leu2305=
XM_011516849.1:c.6840A>C	XP_011515151.1:p.Leu2280=
XM_011516850.1:c.6540A>C	XP_011515152.1:p.Leu2180=
XM_011516851.1:c.3804A>C	XP_011515153.1:p.Leu1268=
XM_011516852.1:c.3804A>C	XP_011515154.1:p.Leu1268=
XM_011516853.1:c.6918A>C	XP_011515155.1:p.Leu2306=
XM_011516854.1:c.2697A>C	XP_011515156.1:p.Leu899=
XR_928446.1:n.2066-1317T>G
XM_005250800.3:c.6918A>C	XP_005250857.1:p.Leu2306=
XM_005250801.5:c.6918A>C	XP_005250858.1:p.Leu2306=
XM_011516848.2:c.6915A>C	XP_011515150.1:p.Leu2305=
XM_011516849.2:c.6840A>C	XP_011515151.1:p.Leu2280=
XM_011516850.2:c.6540A>C	XP_011515152.1:p.Leu2180=
XM_011516851.2:c.3804A>C	XP_011515153.1:p.Leu1268=
XM_011516852.2:c.3804A>C	XP_011515154.1:p.Leu1268=
XM_011516853.2:c.6918A>C	XP_011515155.1:p.Leu2306=
XM_011516854.2:c.2697A>C	XP_011515156.1:p.Leu899=
XM_017013109.1:c.6723A>C	XP_016868598.1:p.Leu2241=
XM_017013111.1:c.3804A>C	XP_016868600.1:p.Leu1268=
XM_017013112.1:c.2475A>C	XP_016868601.1:p.Leu825=
XM_024447074.1:c.5703A>C	XP_024302842.1:p.Leu1901=
NM_017890.5:c.6918A>C MANE Plus Clinical	NP_060360.3:p.Leu2306=
NM_152564.5:c.6843A>C MANE Select	NP_689777.3:p.Leu2281=