Canonical Allele Identifier: CA371867369

Gene: VPS13B

Linked Data

• MyVariant Identifiers: chr8:g.100729534G>T (hg19) ; chr8:g.99717306G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99717306G>T , CM000670.2:g.99717306G>T	GRCh38
NC_000008.10:g.100729534G>T , CM000670.1:g.100729534G>T	GRCh37
NC_000008.9:g.100798710G>T	NCBI36
NG_007098.2:g.709041G>T , LRG_351:g.709041G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682153.1:c.6665G>T	ENSP00000507923.1:p.Ser2222Ile
ENST00000682358.1:n.6735G>T
ENST00000683334.1:c.*2347G>T	ENSP00000507369.1:n.*2347G>T
ENST00000357162.7:c.6590G>T MANE Select	ENSP00000349685.2:p.Ser2197Ile
ENST00000358544.7:c.6665G>T MANE Plus Clinical	ENSP00000351346.2:p.Ser2222Ile
ENST00000357162.6:c.6590G>T	ENSP00000349685.2:p.Ser2197Ile
ENST00000358544.6:c.6665G>T	ENSP00000351346.2:p.Ser2222Ile
NM_017890.4:c.6665G>T , LRG_351t1:c.6665G>T	NP_060360.3:p.Ser2222Ile
NM_152564.4:c.6590G>T , LRG_351t2:c.6590G>T	NP_689777.3:p.Ser2197Ile
XM_005250800.2:c.6665G>T	XP_005250857.1:p.Ser2222Ile
XM_005250801.3:c.6665G>T	XP_005250858.1:p.Ser2222Ile
XM_011516848.1:c.6662G>T	XP_011515150.1:p.Ser2221Ile
XM_011516849.1:c.6587G>T	XP_011515151.1:p.Ser2196Ile
XM_011516850.1:c.6287G>T	XP_011515152.1:p.Ser2096Ile
XM_011516851.1:c.3551G>T	XP_011515153.1:p.Ser1184Ile
XM_011516852.1:c.3551G>T	XP_011515154.1:p.Ser1184Ile
XM_011516853.1:c.6665G>T	XP_011515155.1:p.Ser2222Ile
XM_011516854.1:c.2444G>T	XP_011515156.1:p.Ser815Ile
XM_005250800.3:c.6665G>T	XP_005250857.1:p.Ser2222Ile
XM_005250801.5:c.6665G>T	XP_005250858.1:p.Ser2222Ile
XM_011516848.2:c.6662G>T	XP_011515150.1:p.Ser2221Ile
XM_011516849.2:c.6587G>T	XP_011515151.1:p.Ser2196Ile
XM_011516850.2:c.6287G>T	XP_011515152.1:p.Ser2096Ile
XM_011516851.2:c.3551G>T	XP_011515153.1:p.Ser1184Ile
XM_011516852.2:c.3551G>T	XP_011515154.1:p.Ser1184Ile
XM_011516853.2:c.6665G>T	XP_011515155.1:p.Ser2222Ile
XM_011516854.2:c.2444G>T	XP_011515156.1:p.Ser815Ile
XM_017013109.1:c.6470G>T	XP_016868598.1:p.Ser2157Ile
XM_017013111.1:c.3551G>T	XP_016868600.1:p.Ser1184Ile
XM_017013112.1:c.2222G>T	XP_016868601.1:p.Ser741Ile
XM_024447074.1:c.5450G>T	XP_024302842.1:p.Ser1817Ile
NM_017890.5:c.6665G>T MANE Plus Clinical	NP_060360.3:p.Ser2222Ile
NM_152564.5:c.6590G>T MANE Select	NP_689777.3:p.Ser2197Ile