Canonical Allele Identifier: CA118600

Gene: RAB3GAP1

Linked Data

• ClinVar Variation Id: 7058
• ClinVar RCV Id: RCV000007474 ; RCV000578621 ; RCV002512875
• dbSNP Id: rs587776651
• gnomAD v4: 2-135120919-G-A
• MyVariant Identifiers: chr2:g.135878489G>A (hg19) ; chr2:g.135120919G>A (hg38)
• PubMed: PMID:15696165 ; PMID:17351351 ; PMID:23420520

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.135120919G>A , CM000664.2:g.135120919G>A	GRCh38
NC_000002.11:g.135878489G>A , CM000664.1:g.135878489G>A	GRCh37
NC_000002.10:g.135594959G>A	NCBI36
NG_016972.1:g.73655G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539493.3:c.748+1G>A	ENSP00000444306.2:n.748+1G>A
ENST00000685967.1:c.*205+1G>A	ENSP00000508423.1:n.*205+1G>A
ENST00000686114.1:n.761+1G>A
ENST00000687199.1:c.*816+1G>A	ENSP00000510319.1:n.*816+1G>A
ENST00000688088.1:n.767+1G>A
ENST00000688182.1:c.151-46774G>A	ENSP00000509324.1:n.151-46774G>A
ENST00000689880.1:n.767+1G>A
ENST00000690208.1:c.*426+1G>A	ENSP00000510746.1:n.*426+1G>A
ENST00000690785.1:n.767+1G>A
ENST00000691339.1:c.*371+1G>A	ENSP00000509953.1:n.*371+1G>A
ENST00000691478.1:c.*847+1G>A	ENSP00000509081.1:n.*847+1G>A
ENST00000693554.1:c.748+1G>A	ENSP00000509030.1:n.748+1G>A
ENST00000264158.13:c.748+1G>A MANE Select	ENSP00000264158.8:n.748+1G>A
ENST00000264158.12:c.748+1G>A	ENSP00000264158.7:n.748+1G>A
ENST00000442034.5:c.748+1G>A	ENSP00000411418.1:n.748+1G>A
ENST00000487003.5:n.817+1G>A
ENST00000539493.2:c.616+1G>A	ENSP00000444306.1:n.616+1G>A
NM_001172435.1:c.748+1G>A	NP_001165906.1:n.748+1G>A
NM_012233.2:c.748+1G>A	NP_036365.1:n.748+1G>A
XM_011510822.1:c.748+1G>A	XP_011509124.1:n.748+1G>A
XM_011510823.1:c.748+1G>A	XP_011509125.1:n.748+1G>A
XM_011510824.1:c.748+1G>A	XP_011509126.1:n.748+1G>A
XM_011510825.1:c.748+1G>A	XP_011509127.1:n.748+1G>A
XM_011510823.3:c.748+1G>A	XP_011509125.1:n.748+1G>A
XM_011510825.3:c.748+1G>A	XP_011509127.1:n.748+1G>A
XR_001738674.2:n.775+1G>A
NM_001172435.2:c.748+1G>A	NP_001165906.1:n.748+1G>A
NM_012233.3:c.748+1G>A MANE Select	NP_036365.1:n.748+1G>A