Canonical Allele Identifier: CA371795547

Gene: VPS13B COX6C

Linked Data

• MyVariant Identifiers: chr8:g.100887685A>T (hg19) ; chr8:g.99875457A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99875457A>T , CM000670.2:g.99875457A>T	GRCh38
NC_000008.10:g.100887685A>T , CM000670.1:g.100887685A>T	GRCh37
NC_000008.9:g.100956861A>T	NCBI36
NG_007098.2:g.867192A>T , LRG_351:g.867192A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682153.1:c.*1514A>T (VPS13B)	ENSP00000507923.1:n.*1514A>T
ENST00000682358.1:n.12490A>T (VPS13B)
ENST00000683334.1:c.*7542A>T (VPS13B)	ENSP00000507369.1:n.*7542A>T
ENST00000357162.7:c.11785A>T (VPS13B) MANE Select	ENSP00000349685.2:p.Asn3929Tyr
ENST00000358544.7:c.11860A>T (VPS13B) MANE Plus Clinical	ENSP00000351346.2:p.Asn3954Tyr
ENST00000357162.6:c.11785A>T (VPS13B)	ENSP00000349685.2:p.Asn3929Tyr
ENST00000358544.6:c.11860A>T (VPS13B)	ENSP00000351346.2:p.Asn3954Tyr
ENST00000493587.1:n.1362A>T (VPS13B)
ENST00000520517.5:c.*142-365T>A (COX6C)	ENSP00000429991.1:n.*142-365T>A
ENST00000522934.5:c.*142-2164T>A (COX6C)	ENSP00000428702.1:n.*142-2164T>A
NM_017890.4:c.11860A>T , LRG_351t1:c.11860A>T (VPS13B)	NP_060360.3:p.Asn3954Tyr
NM_152564.4:c.11785A>T , LRG_351t2:c.11785A>T (VPS13B)	NP_689777.3:p.Asn3929Tyr
XM_005250800.2:c.11860A>T (VPS13B)	XP_005250857.1:p.Asn3954Tyr
XM_005250801.3:c.11860A>T (VPS13B)	XP_005250858.1:p.Asn3954Tyr
XM_011516848.1:c.11857A>T (VPS13B)	XP_011515150.1:p.Asn3953Tyr
XM_011516849.1:c.11782A>T (VPS13B)	XP_011515151.1:p.Asn3928Tyr
XM_011516850.1:c.11482A>T (VPS13B)	XP_011515152.1:p.Asn3828Tyr
XM_011516851.1:c.8746A>T (VPS13B)	XP_011515153.1:p.Asn2916Tyr
XM_011516852.1:c.8746A>T (VPS13B)	XP_011515154.1:p.Asn2916Tyr
XM_011516854.1:c.7639A>T (VPS13B)	XP_011515156.1:p.Asn2547Tyr
XM_005250800.3:c.11860A>T (VPS13B)	XP_005250857.1:p.Asn3954Tyr
XM_005250801.5:c.11860A>T (VPS13B)	XP_005250858.1:p.Asn3954Tyr
XM_011516848.2:c.11857A>T (VPS13B)	XP_011515150.1:p.Asn3953Tyr
XM_011516849.2:c.11782A>T (VPS13B)	XP_011515151.1:p.Asn3928Tyr
XM_011516850.2:c.11482A>T (VPS13B)	XP_011515152.1:p.Asn3828Tyr
XM_011516851.2:c.8746A>T (VPS13B)	XP_011515153.1:p.Asn2916Tyr
XM_011516852.2:c.8746A>T (VPS13B)	XP_011515154.1:p.Asn2916Tyr
XM_011516854.2:c.7639A>T (VPS13B)	XP_011515156.1:p.Asn2547Tyr
XM_017013109.1:c.11665A>T (VPS13B)	XP_016868598.1:p.Asn3889Tyr
XM_017013111.1:c.8746A>T (VPS13B)	XP_016868600.1:p.Asn2916Tyr
XM_017013112.1:c.7417A>T (VPS13B)	XP_016868601.1:p.Asn2473Tyr
XM_024447074.1:c.10645A>T (VPS13B)	XP_024302842.1:p.Asn3549Tyr
NM_017890.5:c.11860A>T (VPS13B) MANE Plus Clinical	NP_060360.3:p.Asn3954Tyr
NM_152564.5:c.11785A>T (VPS13B) MANE Select	NP_689777.3:p.Asn3929Tyr