Canonical Allele Identifier: CA371795702

Gene: VPS13B COX6C

Linked Data

• gnomAD v4: 8-99875511-T-C
• MyVariant Identifiers: chr8:g.100887739T>C (hg19) ; chr8:g.99875511T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99875511T>C , CM000670.2:g.99875511T>C	GRCh38
NC_000008.10:g.100887739T>C , CM000670.1:g.100887739T>C	GRCh37
NC_000008.9:g.100956915T>C	NCBI36
NG_007098.2:g.867246T>C , LRG_351:g.867246T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682153.1:c.*1568T>C (VPS13B)	ENSP00000507923.1:n.*1568T>C
ENST00000682358.1:n.12544T>C (VPS13B)
ENST00000683334.1:c.*7596T>C (VPS13B)	ENSP00000507369.1:n.*7596T>C
ENST00000357162.7:c.11839T>C (VPS13B) MANE Select	ENSP00000349685.2:p.Ser3947Pro
ENST00000358544.7:c.11914T>C (VPS13B) MANE Plus Clinical	ENSP00000351346.2:p.Ser3972Pro
ENST00000357162.6:c.11839T>C (VPS13B)	ENSP00000349685.2:p.Ser3947Pro
ENST00000358544.6:c.11914T>C (VPS13B)	ENSP00000351346.2:p.Ser3972Pro
ENST00000493587.1:n.1416T>C (VPS13B)
ENST00000520517.5:c.*142-419A>G (COX6C)	ENSP00000429991.1:n.*142-419A>G
ENST00000522934.5:c.*142-2218A>G (COX6C)	ENSP00000428702.1:n.*142-2218A>G
NM_017890.4:c.11914T>C , LRG_351t1:c.11914T>C (VPS13B)	NP_060360.3:p.Ser3972Pro
NM_152564.4:c.11839T>C , LRG_351t2:c.11839T>C (VPS13B)	NP_689777.3:p.Ser3947Pro
XM_005250800.2:c.11914T>C (VPS13B)	XP_005250857.1:p.Ser3972Pro
XM_005250801.3:c.11914T>C (VPS13B)	XP_005250858.1:p.Ser3972Pro
XM_011516848.1:c.11911T>C (VPS13B)	XP_011515150.1:p.Ser3971Pro
XM_011516849.1:c.11836T>C (VPS13B)	XP_011515151.1:p.Ser3946Pro
XM_011516850.1:c.11536T>C (VPS13B)	XP_011515152.1:p.Ser3846Pro
XM_011516851.1:c.8800T>C (VPS13B)	XP_011515153.1:p.Ser2934Pro
XM_011516852.1:c.8800T>C (VPS13B)	XP_011515154.1:p.Ser2934Pro
XM_011516854.1:c.7693T>C (VPS13B)	XP_011515156.1:p.Ser2565Pro
XM_005250800.3:c.11914T>C (VPS13B)	XP_005250857.1:p.Ser3972Pro
XM_005250801.5:c.11914T>C (VPS13B)	XP_005250858.1:p.Ser3972Pro
XM_011516848.2:c.11911T>C (VPS13B)	XP_011515150.1:p.Ser3971Pro
XM_011516849.2:c.11836T>C (VPS13B)	XP_011515151.1:p.Ser3946Pro
XM_011516850.2:c.11536T>C (VPS13B)	XP_011515152.1:p.Ser3846Pro
XM_011516851.2:c.8800T>C (VPS13B)	XP_011515153.1:p.Ser2934Pro
XM_011516852.2:c.8800T>C (VPS13B)	XP_011515154.1:p.Ser2934Pro
XM_011516854.2:c.7693T>C (VPS13B)	XP_011515156.1:p.Ser2565Pro
XM_017013109.1:c.11719T>C (VPS13B)	XP_016868598.1:p.Ser3907Pro
XM_017013111.1:c.8800T>C (VPS13B)	XP_016868600.1:p.Ser2934Pro
XM_017013112.1:c.7471T>C (VPS13B)	XP_016868601.1:p.Ser2491Pro
XM_024447074.1:c.10699T>C (VPS13B)	XP_024302842.1:p.Ser3567Pro
NM_017890.5:c.11914T>C (VPS13B) MANE Plus Clinical	NP_060360.3:p.Ser3972Pro
NM_152564.5:c.11839T>C (VPS13B) MANE Select	NP_689777.3:p.Ser3947Pro