Canonical Allele Identifier: CA1290527848
Gene: RAB3GAP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.135135785T= , CM000664.2:g.135135785T= GRCh38
NC_000002.11:g.135893355T= , CM000664.1:g.135893355T= GRCh37
NC_000002.10:g.135609825T= NCBI36
NG_016972.1:g.88521T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000539493.3:c.1776T= ENSP00000444306.2:p.Thr592=
ENST00000685967.1:c.*1233T= ENSP00000508423.1:n.*1233T=
ENST00000686114.1:n.2122T=
ENST00000687199.1:c.*1844T= ENSP00000510319.1:n.*1844T=
ENST00000688088.1:n.1795T=
ENST00000688182.1:c.151-31908T= ENSP00000509324.1:n.151-31908T=
ENST00000689880.1:n.1795T=
ENST00000690208.1:c.*1454T= ENSP00000510746.1:n.*1454T=
ENST00000690785.1:n.1795T=
ENST00000691339.1:c.*1399T= ENSP00000509953.1:n.*1399T=
ENST00000691478.1:c.*1875T= ENSP00000509081.1:n.*1875T=
ENST00000693554.1:c.1776T= ENSP00000509030.1:p.Thr592=
ENST00000264158.13:c.1776T= MANE Select ENSP00000264158.8:p.Thr592=
ENST00000264158.12:c.1776T= ENSP00000264158.7:p.Thr592=
ENST00000442034.5:c.1776T= ENSP00000411418.1:p.Thr592=
ENST00000487003.5:n.1845T=
ENST00000539493.2:c.1644T= ENSP00000444306.1:p.Thr548=
NM_001172435.1:c.1776T= NP_001165906.1:p.Thr592=
NM_012233.2:c.1776T= NP_036365.1:p.Thr592=
XM_011510822.1:c.1776T= XP_011509124.1:p.Thr592=
XM_011510823.1:c.1776T= XP_011509125.1:p.Thr592=
XM_011510824.1:c.1776T= XP_011509126.1:p.Thr592=
XM_011510825.1:c.1776T= XP_011509127.1:p.Thr592=
XM_011510823.3:c.1776T= XP_011509125.1:p.Thr592=
XM_011510825.3:c.1776T= XP_011509127.1:p.Thr592=
XR_001738674.2:n.1803T=
NM_001172435.2:c.1776T= NP_001165906.1:p.Thr592=
NM_012233.3:c.1776T= MANE Select NP_036365.1:p.Thr592=