Canonical Allele Identifier: CA371776107
Gene: VPS13B HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.99819433T>G , CM000670.2:g.99819433T>G GRCh38
NC_000008.10:g.100831661T>G , CM000670.1:g.100831661T>G GRCh37
NC_000008.9:g.100900837T>G NCBI36
NG_007098.2:g.811168T>G , LRG_351:g.811168T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000682153.1:c.8718T>G ENSP00000507923.1:p.Asp2906Glu
ENST00000682358.1:n.8788T>G
ENST00000683334.1:c.*4400T>G ENSP00000507369.1:n.*4400T>G
ENST00000357162.7:c.8643T>G MANE Select ENSP00000349685.2:p.Asp2881Glu
ENST00000358544.7:c.8718T>G MANE Plus Clinical ENSP00000351346.2:p.Asp2906Glu
ENST00000357162.6:c.8643T>G ENSP00000349685.2:p.Asp2881Glu
ENST00000358544.6:c.8718T>G ENSP00000351346.2:p.Asp2906Glu
NM_017890.4:c.8718T>G , LRG_351t1:c.8718T>G NP_060360.3:p.Asp2906Glu
NM_152564.4:c.8643T>G , LRG_351t2:c.8643T>G NP_689777.3:p.Asp2881Glu
XM_005250800.2:c.8718T>G XP_005250857.1:p.Asp2906Glu
XM_005250801.3:c.8718T>G XP_005250858.1:p.Asp2906Glu
XM_011516848.1:c.8715T>G XP_011515150.1:p.Asp2905Glu
XM_011516849.1:c.8640T>G XP_011515151.1:p.Asp2880Glu
XM_011516850.1:c.8340T>G XP_011515152.1:p.Asp2780Glu
XM_011516851.1:c.5604T>G XP_011515153.1:p.Asp1868Glu
XM_011516852.1:c.5604T>G XP_011515154.1:p.Asp1868Glu
XM_011516854.1:c.4497T>G XP_011515156.1:p.Asp1499Glu
XM_005250800.3:c.8718T>G XP_005250857.1:p.Asp2906Glu
XM_005250801.5:c.8718T>G XP_005250858.1:p.Asp2906Glu
XM_011516848.2:c.8715T>G XP_011515150.1:p.Asp2905Glu
XM_011516849.2:c.8640T>G XP_011515151.1:p.Asp2880Glu
XM_011516850.2:c.8340T>G XP_011515152.1:p.Asp2780Glu
XM_011516851.2:c.5604T>G XP_011515153.1:p.Asp1868Glu
XM_011516852.2:c.5604T>G XP_011515154.1:p.Asp1868Glu
XM_011516854.2:c.4497T>G XP_011515156.1:p.Asp1499Glu
XM_017013109.1:c.8523T>G XP_016868598.1:p.Asp2841Glu
XM_017013111.1:c.5604T>G XP_016868600.1:p.Asp1868Glu
XM_017013112.1:c.4275T>G XP_016868601.1:p.Asp1425Glu
XM_024447074.1:c.7503T>G XP_024302842.1:p.Asp2501Glu
NM_017890.5:c.8718T>G MANE Plus Clinical NP_060360.3:p.Asp2906Glu
NM_152564.5:c.8643T>G MANE Select NP_689777.3:p.Asp2881Glu