Canonical Allele Identifier: CA371875812

Gene: VPS13B

Linked Data

• MyVariant Identifiers: chr8:g.100789134T>C (hg19) ; chr8:g.99776906T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99776906T>C , CM000670.2:g.99776906T>C	GRCh38
NC_000008.10:g.100789134T>C , CM000670.1:g.100789134T>C	GRCh37
NC_000008.9:g.100858310T>C	NCBI36
NG_007098.2:g.768641T>C , LRG_351:g.768641T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682153.1:c.7454T>C	ENSP00000507923.1:p.Phe2485Ser
ENST00000682358.1:n.7524T>C
ENST00000683334.1:c.*3136T>C	ENSP00000507369.1:n.*3136T>C
ENST00000357162.7:c.7379T>C MANE Select	ENSP00000349685.2:p.Phe2460Ser
ENST00000358544.7:c.7454T>C MANE Plus Clinical	ENSP00000351346.2:p.Phe2485Ser
ENST00000357162.6:c.7379T>C	ENSP00000349685.2:p.Phe2460Ser
ENST00000358544.6:c.7454T>C	ENSP00000351346.2:p.Phe2485Ser
ENST00000518569.1:n.378-1776T>C
NM_017890.4:c.7454T>C , LRG_351t1:c.7454T>C	NP_060360.3:p.Phe2485Ser
NM_152564.4:c.7379T>C , LRG_351t2:c.7379T>C	NP_689777.3:p.Phe2460Ser
XM_005250800.2:c.7454T>C	XP_005250857.1:p.Phe2485Ser
XM_005250801.3:c.7454T>C	XP_005250858.1:p.Phe2485Ser
XM_011516848.1:c.7451T>C	XP_011515150.1:p.Phe2484Ser
XM_011516849.1:c.7376T>C	XP_011515151.1:p.Phe2459Ser
XM_011516850.1:c.7076T>C	XP_011515152.1:p.Phe2359Ser
XM_011516851.1:c.4340T>C	XP_011515153.1:p.Phe1447Ser
XM_011516852.1:c.4340T>C	XP_011515154.1:p.Phe1447Ser
XM_011516853.1:c.7454T>C	XP_011515155.1:p.Phe2485Ser
XM_011516854.1:c.3233T>C	XP_011515156.1:p.Phe1078Ser
XR_928446.1:n.1830+5572A>G
XM_005250800.3:c.7454T>C	XP_005250857.1:p.Phe2485Ser
XM_005250801.5:c.7454T>C	XP_005250858.1:p.Phe2485Ser
XM_011516848.2:c.7451T>C	XP_011515150.1:p.Phe2484Ser
XM_011516849.2:c.7376T>C	XP_011515151.1:p.Phe2459Ser
XM_011516850.2:c.7076T>C	XP_011515152.1:p.Phe2359Ser
XM_011516851.2:c.4340T>C	XP_011515153.1:p.Phe1447Ser
XM_011516852.2:c.4340T>C	XP_011515154.1:p.Phe1447Ser
XM_011516853.2:c.7454T>C	XP_011515155.1:p.Phe2485Ser
XM_011516854.2:c.3233T>C	XP_011515156.1:p.Phe1078Ser
XM_017013109.1:c.7259T>C	XP_016868598.1:p.Phe2420Ser
XM_017013111.1:c.4340T>C	XP_016868600.1:p.Phe1447Ser
XM_017013112.1:c.3011T>C	XP_016868601.1:p.Phe1004Ser
XM_024447074.1:c.6239T>C	XP_024302842.1:p.Phe2080Ser
NM_017890.5:c.7454T>C MANE Plus Clinical	NP_060360.3:p.Phe2485Ser
NM_152564.5:c.7379T>C MANE Select	NP_689777.3:p.Phe2460Ser