Canonical Allele Identifier: CA118603

Gene: RAB3GAP1

Linked Data

• ClinVar Variation Id: 7060
• ClinVar RCV Id: RCV000007476
• dbSNP Id: rs137853053
• MyVariant Identifiers: chr2:g.135893313G>A (hg19) ; chr2:g.135135743G>A (hg38)
• PubMed: PMID:15216543 ; PMID:15696165

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.135135743G>A , CM000664.2:g.135135743G>A	GRCh38
NC_000002.11:g.135893313G>A , CM000664.1:g.135893313G>A	GRCh37
NC_000002.10:g.135609783G>A	NCBI36
NG_016972.1:g.88479G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539493.3:c.1734G>A	ENSP00000444306.2:p.Trp578Ter
ENST00000685967.1:c.*1191G>A	ENSP00000508423.1:n.*1191G>A
ENST00000686114.1:n.2080G>A
ENST00000687199.1:c.*1802G>A	ENSP00000510319.1:n.*1802G>A
ENST00000688088.1:n.1753G>A
ENST00000688182.1:c.151-31950G>A	ENSP00000509324.1:n.151-31950G>A
ENST00000689880.1:n.1753G>A
ENST00000690208.1:c.*1412G>A	ENSP00000510746.1:n.*1412G>A
ENST00000690785.1:n.1753G>A
ENST00000691339.1:c.*1357G>A	ENSP00000509953.1:n.*1357G>A
ENST00000691478.1:c.*1833G>A	ENSP00000509081.1:n.*1833G>A
ENST00000693554.1:c.1734G>A	ENSP00000509030.1:p.Trp578Ter
ENST00000264158.13:c.1734G>A MANE Select	ENSP00000264158.8:p.Trp578Ter
ENST00000264158.12:c.1734G>A	ENSP00000264158.7:p.Trp578Ter
ENST00000442034.5:c.1734G>A	ENSP00000411418.1:p.Trp578Ter
ENST00000487003.5:n.1803G>A
ENST00000539493.2:c.1602G>A	ENSP00000444306.1:p.Trp534Ter
NM_001172435.1:c.1734G>A	NP_001165906.1:p.Trp578Ter
NM_012233.2:c.1734G>A	NP_036365.1:p.Trp578Ter
XM_011510822.1:c.1734G>A	XP_011509124.1:p.Trp578Ter
XM_011510823.1:c.1734G>A	XP_011509125.1:p.Trp578Ter
XM_011510824.1:c.1734G>A	XP_011509126.1:p.Trp578Ter
XM_011510825.1:c.1734G>A	XP_011509127.1:p.Trp578Ter
XM_011510823.3:c.1734G>A	XP_011509125.1:p.Trp578Ter
XM_011510825.3:c.1734G>A	XP_011509127.1:p.Trp578Ter
XR_001738674.2:n.1761G>A
NM_001172435.2:c.1734G>A	NP_001165906.1:p.Trp578Ter
NM_012233.3:c.1734G>A MANE Select	NP_036365.1:p.Trp578Ter