Canonical Allele Identifier: CA409440266

Gene: VAPB

Linked Data

• MyVariant Identifiers: chr20:g.57019215G>C (hg19) ; chr20:g.58444159G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.58444159G>C , CM000682.2:g.58444159G>C	GRCh38
NC_000020.10:g.57019215G>C , CM000682.1:g.57019215G>C	GRCh37
NC_000020.9:g.56452621G>C	NCBI36
NG_008073.2:g.59971G>C , LRG_656:g.59971G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475243.6:c.656G>C MANE Select	ENSP00000417175.1:p.Gly219Ala
ENST00000265619.6:n.850G>C
ENST00000395802.7:c.294G>C	ENSP00000379147.3:p.Arg98Ser
ENST00000463370.5:n.1000G>C
ENST00000475243.5:c.656G>C	ENSP00000417175.1:p.Gly219Ala
ENST00000476395.1:n.2190G>C
ENST00000520497.1:c.*255G>C	ENSP00000430426.1:n.*255G>C
NM_001195677.1:c.294G>C	NP_001182606.1:p.Arg98Ser
NM_004738.4:c.656G>C , LRG_656t1:c.656G>C	NP_004729.1:p.Gly219Ala
NR_036633.1:n.812G>C
NM_001195677.2:c.294G>C	NP_001182606.1:p.Arg98Ser
NM_004738.5:c.656G>C MANE Select	NP_004729.1:p.Gly219Ala
NR_036633.2:n.702G>C