Canonical Allele Identifier: CA371790413

Gene: VPS13B

Linked Data

• MyVariant Identifiers: chr8:g.100874058G>C (hg19) ; chr8:g.99861830G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99861830G>C , CM000670.2:g.99861830G>C	GRCh38
NC_000008.10:g.100874058G>C , CM000670.1:g.100874058G>C	GRCh37
NC_000008.9:g.100943234G>C	NCBI36
NG_007098.2:g.853565G>C , LRG_351:g.853565G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682153.1:c.*268G>C	ENSP00000507923.1:n.*268G>C
ENST00000682358.1:n.11244G>C
ENST00000683334.1:c.*6856G>C	ENSP00000507369.1:n.*6856G>C
ENST00000357162.7:c.11099G>C MANE Select	ENSP00000349685.2:p.Arg3700Pro
ENST00000358544.7:c.11174G>C MANE Plus Clinical	ENSP00000351346.2:p.Arg3725Pro
ENST00000357162.6:c.11099G>C	ENSP00000349685.2:p.Arg3700Pro
ENST00000358544.6:c.11174G>C	ENSP00000351346.2:p.Arg3725Pro
NM_017890.4:c.11174G>C , LRG_351t1:c.11174G>C	NP_060360.3:p.Arg3725Pro
NM_152564.4:c.11099G>C , LRG_351t2:c.11099G>C	NP_689777.3:p.Arg3700Pro
XM_005250800.2:c.11174G>C	XP_005250857.1:p.Arg3725Pro
XM_005250801.3:c.11174G>C	XP_005250858.1:p.Arg3725Pro
XM_011516848.1:c.11171G>C	XP_011515150.1:p.Arg3724Pro
XM_011516849.1:c.11096G>C	XP_011515151.1:p.Arg3699Pro
XM_011516850.1:c.10796G>C	XP_011515152.1:p.Arg3599Pro
XM_011516851.1:c.8060G>C	XP_011515153.1:p.Arg2687Pro
XM_011516852.1:c.8060G>C	XP_011515154.1:p.Arg2687Pro
XM_011516854.1:c.6953G>C	XP_011515156.1:p.Arg2318Pro
XM_005250800.3:c.11174G>C	XP_005250857.1:p.Arg3725Pro
XM_005250801.5:c.11174G>C	XP_005250858.1:p.Arg3725Pro
XM_011516848.2:c.11171G>C	XP_011515150.1:p.Arg3724Pro
XM_011516849.2:c.11096G>C	XP_011515151.1:p.Arg3699Pro
XM_011516850.2:c.10796G>C	XP_011515152.1:p.Arg3599Pro
XM_011516851.2:c.8060G>C	XP_011515153.1:p.Arg2687Pro
XM_011516852.2:c.8060G>C	XP_011515154.1:p.Arg2687Pro
XM_011516854.2:c.6953G>C	XP_011515156.1:p.Arg2318Pro
XM_017013109.1:c.10979G>C	XP_016868598.1:p.Arg3660Pro
XM_017013111.1:c.8060G>C	XP_016868600.1:p.Arg2687Pro
XM_017013112.1:c.6731G>C	XP_016868601.1:p.Arg2244Pro
XM_024447074.1:c.9959G>C	XP_024302842.1:p.Arg3320Pro
NM_017890.5:c.11174G>C MANE Plus Clinical	NP_060360.3:p.Arg3725Pro
NM_152564.5:c.11099G>C MANE Select	NP_689777.3:p.Arg3700Pro