Canonical Allele Identifier: CA348576821

Gene: RAB3GAP1

Linked Data

• ClinVar Variation Id: 2057726
• ClinVar RCV Id: RCV002914933
• dbSNP Id: rs1386421779
• gnomAD v2: 2-135893177-G-A
• gnomAD v3: 2-135135607-G-A
• gnomAD v4: 2-135135607-G-A
• MyVariant Identifiers: chr2:g.135893177G>A (hg19) ; chr2:g.135135607G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.135135607G>A , CM000664.2:g.135135607G>A	GRCh38
NC_000002.11:g.135893177G>A , CM000664.1:g.135893177G>A	GRCh37
NC_000002.10:g.135609647G>A	NCBI36
NG_016972.1:g.88343G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539493.3:c.1598G>A	ENSP00000444306.2:p.Gly533Glu
ENST00000685967.1:c.*1055G>A	ENSP00000508423.1:n.*1055G>A
ENST00000686114.1:n.1944G>A
ENST00000687199.1:c.*1666G>A	ENSP00000510319.1:n.*1666G>A
ENST00000688088.1:n.1617G>A
ENST00000688182.1:c.151-32086G>A	ENSP00000509324.1:n.151-32086G>A
ENST00000689880.1:n.1617G>A
ENST00000690208.1:c.*1276G>A	ENSP00000510746.1:n.*1276G>A
ENST00000690785.1:n.1617G>A
ENST00000691339.1:c.*1221G>A	ENSP00000509953.1:n.*1221G>A
ENST00000691478.1:c.*1697G>A	ENSP00000509081.1:n.*1697G>A
ENST00000693554.1:c.1598G>A	ENSP00000509030.1:p.Gly533Glu
ENST00000264158.13:c.1598G>A MANE Select	ENSP00000264158.8:p.Gly533Glu
ENST00000264158.12:c.1598G>A	ENSP00000264158.7:p.Gly533Glu
ENST00000442034.5:c.1598G>A	ENSP00000411418.1:p.Gly533Glu
ENST00000487003.5:n.1667G>A
ENST00000539493.2:c.1466G>A	ENSP00000444306.1:p.Gly489Glu
NM_001172435.1:c.1598G>A	NP_001165906.1:p.Gly533Glu
NM_012233.2:c.1598G>A	NP_036365.1:p.Gly533Glu
XM_011510822.1:c.1598G>A	XP_011509124.1:p.Gly533Glu
XM_011510823.1:c.1598G>A	XP_011509125.1:p.Gly533Glu
XM_011510824.1:c.1598G>A	XP_011509126.1:p.Gly533Glu
XM_011510825.1:c.1598G>A	XP_011509127.1:p.Gly533Glu
XM_011510823.3:c.1598G>A	XP_011509125.1:p.Gly533Glu
XM_011510825.3:c.1598G>A	XP_011509127.1:p.Gly533Glu
XR_001738674.2:n.1625G>A
NM_001172435.2:c.1598G>A	NP_001165906.1:p.Gly533Glu
NM_012233.3:c.1598G>A MANE Select	NP_036365.1:p.Gly533Glu