Canonical Allele Identifier: CA4824355
Community Standard Title: NM_152564.5(VPS13B):c.7965T>C (p.Gly2655=)
Gene: VPS13B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.99809398T>C , CM000670.2:g.99809398T>C GRCh38
NC_000008.10:g.100821626T>C , CM000670.1:g.100821626T>C GRCh37
NC_000008.9:g.100890802T>C NCBI36
NG_007098.2:g.801133T>C , LRG_351:g.801133T>C

Transcript Alleles

HGVS Amino-acid Change
NM_152564.5:c.7965T>C MANE Select NP_689777.3:p.Gly2655=
ENST00000357162.7:c.7965T>C MANE Select ENSP00000349685.2:p.Gly2655=
NM_017890.5:c.8040T>C MANE Plus Clinical NP_060360.3:p.Gly2680=
ENST00000358544.7:c.8040T>C MANE Plus Clinical ENSP00000351346.2:p.Gly2680=
NM_017890.4:c.8040T>C , LRG_351t1:c.8040T>C NP_060360.3:p.Gly2680=
NM_152564.4:c.7965T>C , LRG_351t2:c.7965T>C NP_689777.3:p.Gly2655=
ENST00000357162.6:c.7965T>C ENSP00000349685.2:p.Gly2655=
ENST00000358544.6:c.8040T>C ENSP00000351346.2:p.Gly2680=
ENST00000682153.1:c.8040T>C ENSP00000507923.1:p.Gly2680=
ENST00000682358.1:n.8110T>C
ENST00000683334.1:c.*3722T>C ENSP00000507369.1:n.*3722T>C
XM_005250800.2:c.8040T>C XP_005250857.1:p.Gly2680=
XM_005250800.3:c.8040T>C XP_005250857.1:p.Gly2680=
XM_005250801.3:c.8040T>C XP_005250858.1:p.Gly2680=
XM_005250801.5:c.8040T>C XP_005250858.1:p.Gly2680=
XM_011516848.1:c.8037T>C XP_011515150.1:p.Gly2679=
XM_011516848.2:c.8037T>C XP_011515150.1:p.Gly2679=
XM_011516849.1:c.7962T>C XP_011515151.1:p.Gly2654=
XM_011516849.2:c.7962T>C XP_011515151.1:p.Gly2654=
XM_011516850.1:c.7662T>C XP_011515152.1:p.Gly2554=
XM_011516850.2:c.7662T>C XP_011515152.1:p.Gly2554=
XM_011516851.1:c.4926T>C XP_011515153.1:p.Gly1642=
XM_011516851.2:c.4926T>C XP_011515153.1:p.Gly1642=
XM_011516852.1:c.4926T>C XP_011515154.1:p.Gly1642=
XM_011516852.2:c.4926T>C XP_011515154.1:p.Gly1642=
XM_011516853.1:c.8040T>C XP_011515155.1:p.Gly2680=
XM_011516853.2:c.8040T>C XP_011515155.1:p.Gly2680=
XM_011516854.1:c.3819T>C XP_011515156.1:p.Gly1273=
XM_011516854.2:c.3819T>C XP_011515156.1:p.Gly1273=
XM_017013109.1:c.7845T>C XP_016868598.1:p.Gly2615=
XM_017013111.1:c.4926T>C XP_016868600.1:p.Gly1642=
XM_017013112.1:c.3597T>C XP_016868601.1:p.Gly1199=
XM_024447074.1:c.6825T>C XP_024302842.1:p.Gly2275=