Canonical Allele Identifier: CA348577548
Gene: RAB3GAP1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.135893312G>A (hg19) chr2:g.135135742G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.135135742G>A , CM000664.2:g.135135742G>A GRCh38
NC_000002.11:g.135893312G>A , CM000664.1:g.135893312G>A GRCh37
NC_000002.10:g.135609782G>A NCBI36
NG_016972.1:g.88478G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000539493.3:c.1733G>A ENSP00000444306.2:p.Trp578Ter
ENST00000685967.1:c.*1190G>A ENSP00000508423.1:n.*1190G>A
ENST00000686114.1:n.2079G>A
ENST00000687199.1:c.*1801G>A ENSP00000510319.1:n.*1801G>A
ENST00000688088.1:n.1752G>A
ENST00000688182.1:c.151-31951G>A ENSP00000509324.1:n.151-31951G>A
ENST00000689880.1:n.1752G>A
ENST00000690208.1:c.*1411G>A ENSP00000510746.1:n.*1411G>A
ENST00000690785.1:n.1752G>A
ENST00000691339.1:c.*1356G>A ENSP00000509953.1:n.*1356G>A
ENST00000691478.1:c.*1832G>A ENSP00000509081.1:n.*1832G>A
ENST00000693554.1:c.1733G>A ENSP00000509030.1:p.Trp578Ter
ENST00000264158.13:c.1733G>A MANE Select ENSP00000264158.8:p.Trp578Ter
ENST00000264158.12:c.1733G>A ENSP00000264158.7:p.Trp578Ter
ENST00000442034.5:c.1733G>A ENSP00000411418.1:p.Trp578Ter
ENST00000487003.5:n.1802G>A
ENST00000539493.2:c.1601G>A ENSP00000444306.1:p.Trp534Ter
NM_001172435.1:c.1733G>A NP_001165906.1:p.Trp578Ter
NM_012233.2:c.1733G>A NP_036365.1:p.Trp578Ter
XM_011510822.1:c.1733G>A XP_011509124.1:p.Trp578Ter
XM_011510823.1:c.1733G>A XP_011509125.1:p.Trp578Ter
XM_011510824.1:c.1733G>A XP_011509126.1:p.Trp578Ter
XM_011510825.1:c.1733G>A XP_011509127.1:p.Trp578Ter
XM_011510823.3:c.1733G>A XP_011509125.1:p.Trp578Ter
XM_011510825.3:c.1733G>A XP_011509127.1:p.Trp578Ter
XR_001738674.2:n.1760G>A
NM_001172435.2:c.1733G>A NP_001165906.1:p.Trp578Ter
NM_012233.3:c.1733G>A MANE Select NP_036365.1:p.Trp578Ter
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