Canonical Allele Identifier: CA371867429

Gene: VPS13B

Linked Data

• gnomAD v4: 8-99717335-C-T
• MyVariant Identifiers: chr8:g.100729563C>T (hg19) ; chr8:g.99717335C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99717335C>T , CM000670.2:g.99717335C>T	GRCh38
NC_000008.10:g.100729563C>T , CM000670.1:g.100729563C>T	GRCh37
NC_000008.9:g.100798739C>T	NCBI36
NG_007098.2:g.709070C>T , LRG_351:g.709070C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682153.1:c.6694C>T	ENSP00000507923.1:p.Pro2232Ser
ENST00000682358.1:n.6764C>T
ENST00000683334.1:c.*2376C>T	ENSP00000507369.1:n.*2376C>T
ENST00000357162.7:c.6619C>T MANE Select	ENSP00000349685.2:p.Pro2207Ser
ENST00000358544.7:c.6694C>T MANE Plus Clinical	ENSP00000351346.2:p.Pro2232Ser
ENST00000357162.6:c.6619C>T	ENSP00000349685.2:p.Pro2207Ser
ENST00000358544.6:c.6694C>T	ENSP00000351346.2:p.Pro2232Ser
NM_017890.4:c.6694C>T , LRG_351t1:c.6694C>T	NP_060360.3:p.Pro2232Ser
NM_152564.4:c.6619C>T , LRG_351t2:c.6619C>T	NP_689777.3:p.Pro2207Ser
XM_005250800.2:c.6694C>T	XP_005250857.1:p.Pro2232Ser
XM_005250801.3:c.6694C>T	XP_005250858.1:p.Pro2232Ser
XM_011516848.1:c.6691C>T	XP_011515150.1:p.Pro2231Ser
XM_011516849.1:c.6616C>T	XP_011515151.1:p.Pro2206Ser
XM_011516850.1:c.6316C>T	XP_011515152.1:p.Pro2106Ser
XM_011516851.1:c.3580C>T	XP_011515153.1:p.Pro1194Ser
XM_011516852.1:c.3580C>T	XP_011515154.1:p.Pro1194Ser
XM_011516853.1:c.6694C>T	XP_011515155.1:p.Pro2232Ser
XM_011516854.1:c.2473C>T	XP_011515156.1:p.Pro825Ser
XM_005250800.3:c.6694C>T	XP_005250857.1:p.Pro2232Ser
XM_005250801.5:c.6694C>T	XP_005250858.1:p.Pro2232Ser
XM_011516848.2:c.6691C>T	XP_011515150.1:p.Pro2231Ser
XM_011516849.2:c.6616C>T	XP_011515151.1:p.Pro2206Ser
XM_011516850.2:c.6316C>T	XP_011515152.1:p.Pro2106Ser
XM_011516851.2:c.3580C>T	XP_011515153.1:p.Pro1194Ser
XM_011516852.2:c.3580C>T	XP_011515154.1:p.Pro1194Ser
XM_011516853.2:c.6694C>T	XP_011515155.1:p.Pro2232Ser
XM_011516854.2:c.2473C>T	XP_011515156.1:p.Pro825Ser
XM_017013109.1:c.6499C>T	XP_016868598.1:p.Pro2167Ser
XM_017013111.1:c.3580C>T	XP_016868600.1:p.Pro1194Ser
XM_017013112.1:c.2251C>T	XP_016868601.1:p.Pro751Ser
XM_024447074.1:c.5479C>T	XP_024302842.1:p.Pro1827Ser
NM_017890.5:c.6694C>T MANE Plus Clinical	NP_060360.3:p.Pro2232Ser
NM_152564.5:c.6619C>T MANE Select	NP_689777.3:p.Pro2207Ser