Canonical Allele Identifier: CA462458684

Gene: VPS13B COX6C

Linked Data

• ClinVar Variation Id: 1631549
• ClinVar RCV Id: RCV002114645
• dbSNP Id: rs1257015556
• MyVariant Identifiers: chr8:g.100887741T>G (hg19) ; chr8:g.99875513T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99875513T>G , CM000670.2:g.99875513T>G	GRCh38
NC_000008.10:g.100887741T>G , CM000670.1:g.100887741T>G	GRCh37
NC_000008.9:g.100956917T>G	NCBI36
NG_007098.2:g.867248T>G , LRG_351:g.867248T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682153.1:c.*1570T>G (VPS13B)	ENSP00000507923.1:n.*1570T>G
ENST00000682358.1:n.12546T>G (VPS13B)
ENST00000683334.1:c.*7598T>G (VPS13B)	ENSP00000507369.1:n.*7598T>G
ENST00000357162.7:c.11841T>G (VPS13B) MANE Select	ENSP00000349685.2:p.Ser3947=
ENST00000358544.7:c.11916T>G (VPS13B) MANE Plus Clinical	ENSP00000351346.2:p.Ser3972=
ENST00000357162.6:c.11841T>G (VPS13B)	ENSP00000349685.2:p.Ser3947=
ENST00000358544.6:c.11916T>G (VPS13B)	ENSP00000351346.2:p.Ser3972=
ENST00000493587.1:n.1418T>G (VPS13B)
ENST00000520517.5:c.*142-421A>C (COX6C)	ENSP00000429991.1:n.*142-421A>C
ENST00000522934.5:c.*142-2220A>C (COX6C)	ENSP00000428702.1:n.*142-2220A>C
NM_017890.4:c.11916T>G , LRG_351t1:c.11916T>G (VPS13B)	NP_060360.3:p.Ser3972=
NM_152564.4:c.11841T>G , LRG_351t2:c.11841T>G (VPS13B)	NP_689777.3:p.Ser3947=
XM_005250800.2:c.11916T>G (VPS13B)	XP_005250857.1:p.Ser3972=
XM_005250801.3:c.11916T>G (VPS13B)	XP_005250858.1:p.Ser3972=
XM_011516848.1:c.11913T>G (VPS13B)	XP_011515150.1:p.Ser3971=
XM_011516849.1:c.11838T>G (VPS13B)	XP_011515151.1:p.Ser3946=
XM_011516850.1:c.11538T>G (VPS13B)	XP_011515152.1:p.Ser3846=
XM_011516851.1:c.8802T>G (VPS13B)	XP_011515153.1:p.Ser2934=
XM_011516852.1:c.8802T>G (VPS13B)	XP_011515154.1:p.Ser2934=
XM_011516854.1:c.7695T>G (VPS13B)	XP_011515156.1:p.Ser2565=
XM_005250800.3:c.11916T>G (VPS13B)	XP_005250857.1:p.Ser3972=
XM_005250801.5:c.11916T>G (VPS13B)	XP_005250858.1:p.Ser3972=
XM_011516848.2:c.11913T>G (VPS13B)	XP_011515150.1:p.Ser3971=
XM_011516849.2:c.11838T>G (VPS13B)	XP_011515151.1:p.Ser3946=
XM_011516850.2:c.11538T>G (VPS13B)	XP_011515152.1:p.Ser3846=
XM_011516851.2:c.8802T>G (VPS13B)	XP_011515153.1:p.Ser2934=
XM_011516852.2:c.8802T>G (VPS13B)	XP_011515154.1:p.Ser2934=
XM_011516854.2:c.7695T>G (VPS13B)	XP_011515156.1:p.Ser2565=
XM_017013109.1:c.11721T>G (VPS13B)	XP_016868598.1:p.Ser3907=
XM_017013111.1:c.8802T>G (VPS13B)	XP_016868600.1:p.Ser2934=
XM_017013112.1:c.7473T>G (VPS13B)	XP_016868601.1:p.Ser2491=
XM_024447074.1:c.10701T>G (VPS13B)	XP_024302842.1:p.Ser3567=
NM_017890.5:c.11916T>G (VPS13B) MANE Plus Clinical	NP_060360.3:p.Ser3972=
NM_152564.5:c.11841T>G (VPS13B) MANE Select	NP_689777.3:p.Ser3947=