Canonical Allele Identifier: CA371875751

Gene: VPS13B

Linked Data

• MyVariant Identifiers: chr8:g.100789106G>C (hg19) ; chr8:g.99776878G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99776878G>C , CM000670.2:g.99776878G>C	GRCh38
NC_000008.10:g.100789106G>C , CM000670.1:g.100789106G>C	GRCh37
NC_000008.9:g.100858282G>C	NCBI36
NG_007098.2:g.768613G>C , LRG_351:g.768613G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682153.1:c.7426G>C	ENSP00000507923.1:p.Val2476Leu
ENST00000682358.1:n.7496G>C
ENST00000683334.1:c.*3108G>C	ENSP00000507369.1:n.*3108G>C
ENST00000357162.7:c.7351G>C MANE Select	ENSP00000349685.2:p.Val2451Leu
ENST00000358544.7:c.7426G>C MANE Plus Clinical	ENSP00000351346.2:p.Val2476Leu
ENST00000357162.6:c.7351G>C	ENSP00000349685.2:p.Val2451Leu
ENST00000358544.6:c.7426G>C	ENSP00000351346.2:p.Val2476Leu
ENST00000518569.1:n.378-1804G>C
NM_017890.4:c.7426G>C , LRG_351t1:c.7426G>C	NP_060360.3:p.Val2476Leu
NM_152564.4:c.7351G>C , LRG_351t2:c.7351G>C	NP_689777.3:p.Val2451Leu
XM_005250800.2:c.7426G>C	XP_005250857.1:p.Val2476Leu
XM_005250801.3:c.7426G>C	XP_005250858.1:p.Val2476Leu
XM_011516848.1:c.7423G>C	XP_011515150.1:p.Val2475Leu
XM_011516849.1:c.7348G>C	XP_011515151.1:p.Val2450Leu
XM_011516850.1:c.7048G>C	XP_011515152.1:p.Val2350Leu
XM_011516851.1:c.4312G>C	XP_011515153.1:p.Val1438Leu
XM_011516852.1:c.4312G>C	XP_011515154.1:p.Val1438Leu
XM_011516853.1:c.7426G>C	XP_011515155.1:p.Val2476Leu
XM_011516854.1:c.3205G>C	XP_011515156.1:p.Val1069Leu
XR_928446.1:n.1830+5600C>G
XM_005250800.3:c.7426G>C	XP_005250857.1:p.Val2476Leu
XM_005250801.5:c.7426G>C	XP_005250858.1:p.Val2476Leu
XM_011516848.2:c.7423G>C	XP_011515150.1:p.Val2475Leu
XM_011516849.2:c.7348G>C	XP_011515151.1:p.Val2450Leu
XM_011516850.2:c.7048G>C	XP_011515152.1:p.Val2350Leu
XM_011516851.2:c.4312G>C	XP_011515153.1:p.Val1438Leu
XM_011516852.2:c.4312G>C	XP_011515154.1:p.Val1438Leu
XM_011516853.2:c.7426G>C	XP_011515155.1:p.Val2476Leu
XM_011516854.2:c.3205G>C	XP_011515156.1:p.Val1069Leu
XM_017013109.1:c.7231G>C	XP_016868598.1:p.Val2411Leu
XM_017013111.1:c.4312G>C	XP_016868600.1:p.Val1438Leu
XM_017013112.1:c.2983G>C	XP_016868601.1:p.Val995Leu
XM_024447074.1:c.6211G>C	XP_024302842.1:p.Val2071Leu
NM_017890.5:c.7426G>C MANE Plus Clinical	NP_060360.3:p.Val2476Leu
NM_152564.5:c.7351G>C MANE Select	NP_689777.3:p.Val2451Leu