Canonical Allele Identifier: CA1884736
Gene: RAB3GAP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 545410
dbSNP Id: rs532964185

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.135130060C>T , CM000664.2:g.135130060C>T GRCh38
NC_000002.11:g.135887630C>T , CM000664.1:g.135887630C>T GRCh37
NC_000002.10:g.135604100C>T NCBI36
NG_016972.1:g.82796C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000539493.3:c.1039C>T ENSP00000444306.2:p.Arg347Ter
ENST00000685967.1:c.*496C>T ENSP00000508423.1:n.*496C>T
ENST00000686114.1:n.1385C>T
ENST00000687199.1:c.*1107C>T ENSP00000510319.1:n.*1107C>T
ENST00000688088.1:n.1058C>T
ENST00000688182.1:c.151-37633C>T ENSP00000509324.1:n.151-37633C>T
ENST00000689880.1:n.1058C>T
ENST00000690208.1:c.*717C>T ENSP00000510746.1:n.*717C>T
ENST00000690785.1:n.1058C>T
ENST00000691339.1:c.*662C>T ENSP00000509953.1:n.*662C>T
ENST00000691478.1:c.*1138C>T ENSP00000509081.1:n.*1138C>T
ENST00000693554.1:c.1039C>T ENSP00000509030.1:p.Arg347Ter
ENST00000264158.13:c.1039C>T MANE Select ENSP00000264158.8:p.Arg347Ter
ENST00000264158.12:c.1039C>T ENSP00000264158.7:p.Arg347Ter
ENST00000442034.5:c.1039C>T ENSP00000411418.1:p.Arg347Ter
ENST00000487003.5:n.1108C>T
ENST00000489858.1:n.376C>T
ENST00000539493.2:c.907C>T ENSP00000444306.1:p.Arg303Ter
NM_001172435.1:c.1039C>T NP_001165906.1:p.Arg347Ter
NM_012233.2:c.1039C>T NP_036365.1:p.Arg347Ter
XM_011510822.1:c.1039C>T XP_011509124.1:p.Arg347Ter
XM_011510823.1:c.1039C>T XP_011509125.1:p.Arg347Ter
XM_011510824.1:c.1039C>T XP_011509126.1:p.Arg347Ter
XM_011510825.1:c.1039C>T XP_011509127.1:p.Arg347Ter
XM_011510823.3:c.1039C>T XP_011509125.1:p.Arg347Ter
XM_011510825.3:c.1039C>T XP_011509127.1:p.Arg347Ter
XR_001738674.2:n.1066C>T
NM_001172435.2:c.1039C>T NP_001165906.1:p.Arg347Ter
NM_012233.3:c.1039C>T MANE Select NP_036365.1:p.Arg347Ter