Canonical Allele Identifier: CA371867394

Gene: VPS13B

Linked Data

• MyVariant Identifiers: chr8:g.100729548C>T (hg19) ; chr8:g.99717320C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99717320C>T , CM000670.2:g.99717320C>T	GRCh38
NC_000008.10:g.100729548C>T , CM000670.1:g.100729548C>T	GRCh37
NC_000008.9:g.100798724C>T	NCBI36
NG_007098.2:g.709055C>T , LRG_351:g.709055C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682153.1:c.6679C>T	ENSP00000507923.1:p.Pro2227Ser
ENST00000682358.1:n.6749C>T
ENST00000683334.1:c.*2361C>T	ENSP00000507369.1:n.*2361C>T
ENST00000357162.7:c.6604C>T MANE Select	ENSP00000349685.2:p.Pro2202Ser
ENST00000358544.7:c.6679C>T MANE Plus Clinical	ENSP00000351346.2:p.Pro2227Ser
ENST00000357162.6:c.6604C>T	ENSP00000349685.2:p.Pro2202Ser
ENST00000358544.6:c.6679C>T	ENSP00000351346.2:p.Pro2227Ser
NM_017890.4:c.6679C>T , LRG_351t1:c.6679C>T	NP_060360.3:p.Pro2227Ser
NM_152564.4:c.6604C>T , LRG_351t2:c.6604C>T	NP_689777.3:p.Pro2202Ser
XM_005250800.2:c.6679C>T	XP_005250857.1:p.Pro2227Ser
XM_005250801.3:c.6679C>T	XP_005250858.1:p.Pro2227Ser
XM_011516848.1:c.6676C>T	XP_011515150.1:p.Pro2226Ser
XM_011516849.1:c.6601C>T	XP_011515151.1:p.Pro2201Ser
XM_011516850.1:c.6301C>T	XP_011515152.1:p.Pro2101Ser
XM_011516851.1:c.3565C>T	XP_011515153.1:p.Pro1189Ser
XM_011516852.1:c.3565C>T	XP_011515154.1:p.Pro1189Ser
XM_011516853.1:c.6679C>T	XP_011515155.1:p.Pro2227Ser
XM_011516854.1:c.2458C>T	XP_011515156.1:p.Pro820Ser
XM_005250800.3:c.6679C>T	XP_005250857.1:p.Pro2227Ser
XM_005250801.5:c.6679C>T	XP_005250858.1:p.Pro2227Ser
XM_011516848.2:c.6676C>T	XP_011515150.1:p.Pro2226Ser
XM_011516849.2:c.6601C>T	XP_011515151.1:p.Pro2201Ser
XM_011516850.2:c.6301C>T	XP_011515152.1:p.Pro2101Ser
XM_011516851.2:c.3565C>T	XP_011515153.1:p.Pro1189Ser
XM_011516852.2:c.3565C>T	XP_011515154.1:p.Pro1189Ser
XM_011516853.2:c.6679C>T	XP_011515155.1:p.Pro2227Ser
XM_011516854.2:c.2458C>T	XP_011515156.1:p.Pro820Ser
XM_017013109.1:c.6484C>T	XP_016868598.1:p.Pro2162Ser
XM_017013111.1:c.3565C>T	XP_016868600.1:p.Pro1189Ser
XM_017013112.1:c.2236C>T	XP_016868601.1:p.Pro746Ser
XM_024447074.1:c.5464C>T	XP_024302842.1:p.Pro1822Ser
NM_017890.5:c.6679C>T MANE Plus Clinical	NP_060360.3:p.Pro2227Ser
NM_152564.5:c.6604C>T MANE Select	NP_689777.3:p.Pro2202Ser