Canonical Allele Identifier: CA371795806

Gene: VPS13B COX6C

Linked Data

• MyVariant Identifiers: chr8:g.100887764T>C (hg19) ; chr8:g.99875536T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99875536T>C , CM000670.2:g.99875536T>C	GRCh38
NC_000008.10:g.100887764T>C , CM000670.1:g.100887764T>C	GRCh37
NC_000008.9:g.100956940T>C	NCBI36
NG_007098.2:g.867271T>C , LRG_351:g.867271T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682153.1:c.*1593T>C (VPS13B)	ENSP00000507923.1:n.*1593T>C
ENST00000682358.1:n.12569T>C (VPS13B)
ENST00000683334.1:c.*7621T>C (VPS13B)	ENSP00000507369.1:n.*7621T>C
ENST00000357162.7:c.11864T>C (VPS13B) MANE Select	ENSP00000349685.2:p.Val3955Ala
ENST00000358544.7:c.11939T>C (VPS13B) MANE Plus Clinical	ENSP00000351346.2:p.Val3980Ala
ENST00000357162.6:c.11864T>C (VPS13B)	ENSP00000349685.2:p.Val3955Ala
ENST00000358544.6:c.11939T>C (VPS13B)	ENSP00000351346.2:p.Val3980Ala
ENST00000493587.1:n.1441T>C (VPS13B)
ENST00000520517.5:c.*142-444A>G (COX6C)	ENSP00000429991.1:n.*142-444A>G
ENST00000522934.5:c.*142-2243A>G (COX6C)	ENSP00000428702.1:n.*142-2243A>G
NM_017890.4:c.11939T>C , LRG_351t1:c.11939T>C (VPS13B)	NP_060360.3:p.Val3980Ala
NM_152564.4:c.11864T>C , LRG_351t2:c.11864T>C (VPS13B)	NP_689777.3:p.Val3955Ala
XM_005250800.2:c.11939T>C (VPS13B)	XP_005250857.1:p.Val3980Ala
XM_005250801.3:c.11939T>C (VPS13B)	XP_005250858.1:p.Val3980Ala
XM_011516848.1:c.11936T>C (VPS13B)	XP_011515150.1:p.Val3979Ala
XM_011516849.1:c.11861T>C (VPS13B)	XP_011515151.1:p.Val3954Ala
XM_011516850.1:c.11561T>C (VPS13B)	XP_011515152.1:p.Val3854Ala
XM_011516851.1:c.8825T>C (VPS13B)	XP_011515153.1:p.Val2942Ala
XM_011516852.1:c.8825T>C (VPS13B)	XP_011515154.1:p.Val2942Ala
XM_011516854.1:c.7718T>C (VPS13B)	XP_011515156.1:p.Val2573Ala
XM_005250800.3:c.11939T>C (VPS13B)	XP_005250857.1:p.Val3980Ala
XM_005250801.5:c.11939T>C (VPS13B)	XP_005250858.1:p.Val3980Ala
XM_011516848.2:c.11936T>C (VPS13B)	XP_011515150.1:p.Val3979Ala
XM_011516849.2:c.11861T>C (VPS13B)	XP_011515151.1:p.Val3954Ala
XM_011516850.2:c.11561T>C (VPS13B)	XP_011515152.1:p.Val3854Ala
XM_011516851.2:c.8825T>C (VPS13B)	XP_011515153.1:p.Val2942Ala
XM_011516852.2:c.8825T>C (VPS13B)	XP_011515154.1:p.Val2942Ala
XM_011516854.2:c.7718T>C (VPS13B)	XP_011515156.1:p.Val2573Ala
XM_017013109.1:c.11744T>C (VPS13B)	XP_016868598.1:p.Val3915Ala
XM_017013111.1:c.8825T>C (VPS13B)	XP_016868600.1:p.Val2942Ala
XM_017013112.1:c.7496T>C (VPS13B)	XP_016868601.1:p.Val2499Ala
XM_024447074.1:c.10724T>C (VPS13B)	XP_024302842.1:p.Val3575Ala
NM_017890.5:c.11939T>C (VPS13B) MANE Plus Clinical	NP_060360.3:p.Val3980Ala
NM_152564.5:c.11864T>C (VPS13B) MANE Select	NP_689777.3:p.Val3955Ala