Canonical Allele Identifier: CA371875538

Gene: VPS13B

Linked Data

• MyVariant Identifiers: chr8:g.100789004T>C (hg19) ; chr8:g.99776776T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99776776T>C , CM000670.2:g.99776776T>C	GRCh38
NC_000008.10:g.100789004T>C , CM000670.1:g.100789004T>C	GRCh37
NC_000008.9:g.100858180T>C	NCBI36
NG_007098.2:g.768511T>C , LRG_351:g.768511T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682153.1:c.7324T>C	ENSP00000507923.1:p.Ser2442Pro
ENST00000682358.1:n.7394T>C
ENST00000683334.1:c.*3006T>C	ENSP00000507369.1:n.*3006T>C
ENST00000357162.7:c.7249T>C MANE Select	ENSP00000349685.2:p.Ser2417Pro
ENST00000358544.7:c.7324T>C MANE Plus Clinical	ENSP00000351346.2:p.Ser2442Pro
ENST00000357162.6:c.7249T>C	ENSP00000349685.2:p.Ser2417Pro
ENST00000358544.6:c.7324T>C	ENSP00000351346.2:p.Ser2442Pro
ENST00000518569.1:n.378-1906T>C
NM_017890.4:c.7324T>C , LRG_351t1:c.7324T>C	NP_060360.3:p.Ser2442Pro
NM_152564.4:c.7249T>C , LRG_351t2:c.7249T>C	NP_689777.3:p.Ser2417Pro
XM_005250800.2:c.7324T>C	XP_005250857.1:p.Ser2442Pro
XM_005250801.3:c.7324T>C	XP_005250858.1:p.Ser2442Pro
XM_011516848.1:c.7321T>C	XP_011515150.1:p.Ser2441Pro
XM_011516849.1:c.7246T>C	XP_011515151.1:p.Ser2416Pro
XM_011516850.1:c.6946T>C	XP_011515152.1:p.Ser2316Pro
XM_011516851.1:c.4210T>C	XP_011515153.1:p.Ser1404Pro
XM_011516852.1:c.4210T>C	XP_011515154.1:p.Ser1404Pro
XM_011516853.1:c.7324T>C	XP_011515155.1:p.Ser2442Pro
XM_011516854.1:c.3103T>C	XP_011515156.1:p.Ser1035Pro
XR_928446.1:n.1830+5702A>G
XM_005250800.3:c.7324T>C	XP_005250857.1:p.Ser2442Pro
XM_005250801.5:c.7324T>C	XP_005250858.1:p.Ser2442Pro
XM_011516848.2:c.7321T>C	XP_011515150.1:p.Ser2441Pro
XM_011516849.2:c.7246T>C	XP_011515151.1:p.Ser2416Pro
XM_011516850.2:c.6946T>C	XP_011515152.1:p.Ser2316Pro
XM_011516851.2:c.4210T>C	XP_011515153.1:p.Ser1404Pro
XM_011516852.2:c.4210T>C	XP_011515154.1:p.Ser1404Pro
XM_011516853.2:c.7324T>C	XP_011515155.1:p.Ser2442Pro
XM_011516854.2:c.3103T>C	XP_011515156.1:p.Ser1035Pro
XM_017013109.1:c.7129T>C	XP_016868598.1:p.Ser2377Pro
XM_017013111.1:c.4210T>C	XP_016868600.1:p.Ser1404Pro
XM_017013112.1:c.2881T>C	XP_016868601.1:p.Ser961Pro
XM_024447074.1:c.6109T>C	XP_024302842.1:p.Ser2037Pro
NM_017890.5:c.7324T>C MANE Plus Clinical	NP_060360.3:p.Ser2442Pro
NM_152564.5:c.7249T>C MANE Select	NP_689777.3:p.Ser2417Pro