Canonical Allele Identifier: CA511063388

Gene: VAPB

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.58440912T>C , CM000682.2:g.58440912T>C	GRCh38
NC_000020.10:g.57015968T>C , CM000682.1:g.57015968T>C	GRCh37
NC_000020.9:g.56449374T>C	NCBI36
NG_008073.2:g.56724T>C , LRG_656:g.56724T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_004738.5:c.402T>C MANE Select	NP_004729.1:p.Asp134=
ENST00000475243.6:c.402T>C MANE Select	ENSP00000417175.1:p.Asp134=
NM_001195677.1:c.212-3165T>C	NP_001182606.1:n.212-3165T>C
NM_001195677.2:c.212-3165T>C	NP_001182606.1:n.212-3165T>C
NM_004738.4:c.402T>C , LRG_656t1:c.402T>C	NP_004729.1:p.Asp134=
NR_036633.1:n.558T>C
NR_036633.2:n.448T>C
ENST00000265619.6:n.596T>C
ENST00000395802.7:c.212-3165T>C	ENSP00000379147.3:n.212-3165T>C
ENST00000463370.5:n.746T>C
ENST00000475243.5:c.402T>C	ENSP00000417175.1:p.Asp134=
ENST00000476395.1:n.1936T>C
ENST00000520497.1:c.*1T>C	ENSP00000430426.1:n.*1T>C
XR_001754433.2:n.814T>C