Canonical Allele Identifier: CA371776194

Gene: VPS13B

Linked Data

• MyVariant Identifiers: chr8:g.100831686C>T (hg19) ; chr8:g.99819458C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99819458C>T , CM000670.2:g.99819458C>T	GRCh38
NC_000008.10:g.100831686C>T , CM000670.1:g.100831686C>T	GRCh37
NC_000008.9:g.100900862C>T	NCBI36
NG_007098.2:g.811193C>T , LRG_351:g.811193C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682153.1:c.8743C>T	ENSP00000507923.1:p.Leu2915Phe
ENST00000682358.1:n.8813C>T
ENST00000683334.1:c.*4425C>T	ENSP00000507369.1:n.*4425C>T
ENST00000357162.7:c.8668C>T MANE Select	ENSP00000349685.2:p.Leu2890Phe
ENST00000358544.7:c.8743C>T MANE Plus Clinical	ENSP00000351346.2:p.Leu2915Phe
ENST00000357162.6:c.8668C>T	ENSP00000349685.2:p.Leu2890Phe
ENST00000358544.6:c.8743C>T	ENSP00000351346.2:p.Leu2915Phe
NM_017890.4:c.8743C>T , LRG_351t1:c.8743C>T	NP_060360.3:p.Leu2915Phe
NM_152564.4:c.8668C>T , LRG_351t2:c.8668C>T	NP_689777.3:p.Leu2890Phe
XM_005250800.2:c.8743C>T	XP_005250857.1:p.Leu2915Phe
XM_005250801.3:c.8743C>T	XP_005250858.1:p.Leu2915Phe
XM_011516848.1:c.8740C>T	XP_011515150.1:p.Leu2914Phe
XM_011516849.1:c.8665C>T	XP_011515151.1:p.Leu2889Phe
XM_011516850.1:c.8365C>T	XP_011515152.1:p.Leu2789Phe
XM_011516851.1:c.5629C>T	XP_011515153.1:p.Leu1877Phe
XM_011516852.1:c.5629C>T	XP_011515154.1:p.Leu1877Phe
XM_011516854.1:c.4522C>T	XP_011515156.1:p.Leu1508Phe
XM_005250800.3:c.8743C>T	XP_005250857.1:p.Leu2915Phe
XM_005250801.5:c.8743C>T	XP_005250858.1:p.Leu2915Phe
XM_011516848.2:c.8740C>T	XP_011515150.1:p.Leu2914Phe
XM_011516849.2:c.8665C>T	XP_011515151.1:p.Leu2889Phe
XM_011516850.2:c.8365C>T	XP_011515152.1:p.Leu2789Phe
XM_011516851.2:c.5629C>T	XP_011515153.1:p.Leu1877Phe
XM_011516852.2:c.5629C>T	XP_011515154.1:p.Leu1877Phe
XM_011516854.2:c.4522C>T	XP_011515156.1:p.Leu1508Phe
XM_017013109.1:c.8548C>T	XP_016868598.1:p.Leu2850Phe
XM_017013111.1:c.5629C>T	XP_016868600.1:p.Leu1877Phe
XM_017013112.1:c.4300C>T	XP_016868601.1:p.Leu1434Phe
XM_024447074.1:c.7528C>T	XP_024302842.1:p.Leu2510Phe
NM_017890.5:c.8743C>T MANE Plus Clinical	NP_060360.3:p.Leu2915Phe
NM_152564.5:c.8668C>T MANE Select	NP_689777.3:p.Leu2890Phe