Canonical Allele Identifier: CA429083319
Gene: RAB3GAP1 HGNC NCBI
ZRANB3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.135907944A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.135150374A>C , CM000664.2:g.135150374A>C GRCh38
NC_000002.11:g.135907944A>C , CM000664.1:g.135907944A>C GRCh37
NC_000002.10:g.135624414A>C NCBI36
NG_016972.1:g.103110A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000539493.3:c.1929A>C (RAB3GAP1) ENSP00000444306.2:p.Pro643=
ENST00000685967.1:c.*1386A>C (RAB3GAP1) ENSP00000508423.1:n.*1386A>C
ENST00000686114.1:n.2275A>C (RAB3GAP1)
ENST00000687199.1:c.*1997A>C (RAB3GAP1) ENSP00000510319.1:n.*1997A>C
ENST00000687630.1:n.1561A>C (RAB3GAP1)
ENST00000688088.1:n.1948A>C (RAB3GAP1)
ENST00000688182.1:c.151-17319A>C (RAB3GAP1) ENSP00000509324.1:n.151-17319A>C
ENST00000689880.1:n.1948A>C (RAB3GAP1)
ENST00000690208.1:c.*1607A>C (RAB3GAP1) ENSP00000510746.1:n.*1607A>C
ENST00000690785.1:n.1948A>C (RAB3GAP1)
ENST00000691339.1:c.*1552A>C (RAB3GAP1) ENSP00000509953.1:n.*1552A>C
ENST00000691478.1:c.*2028A>C (RAB3GAP1) ENSP00000509081.1:n.*2028A>C
ENST00000693554.1:c.1929A>C (RAB3GAP1) ENSP00000509030.1:p.Pro643=
ENST00000264158.13:c.1929A>C (RAB3GAP1) MANE Select ENSP00000264158.8:p.Pro643=
ENST00000264158.12:c.1929A>C (RAB3GAP1) ENSP00000264158.7:p.Pro643=
ENST00000412849.5:n.2140+2487T>G (ZRANB3)
ENST00000442034.5:c.1929A>C (RAB3GAP1) ENSP00000411418.1:p.Pro643=
ENST00000487003.5:n.1998A>C (RAB3GAP1)
ENST00000539493.2:c.1797A>C (RAB3GAP1) ENSP00000444306.1:p.Pro599=
ENST00000619650.4:c.*179+2487T>G (ZRANB3) ENSP00000480120.1:n.*179+2487T>G
NM_001172435.1:c.1929A>C (RAB3GAP1) NP_001165906.1:p.Pro643=
NM_012233.2:c.1929A>C (RAB3GAP1) NP_036365.1:p.Pro643=
XM_011510822.1:c.1929A>C (RAB3GAP1) XP_011509124.1:p.Pro643=
XM_011510823.1:c.1929A>C (RAB3GAP1) XP_011509125.1:p.Pro643=
XM_011510824.1:c.1929A>C (RAB3GAP1) XP_011509126.1:p.Pro643=
XM_011510825.1:c.1929A>C (RAB3GAP1) XP_011509127.1:p.Pro643=
XM_011510823.3:c.1929A>C (RAB3GAP1) XP_011509125.1:p.Pro643=
XM_011510825.3:c.1929A>C (RAB3GAP1) XP_011509127.1:p.Pro643=
XR_001738674.2:n.1956A>C (RAB3GAP1)
NM_001172435.2:c.1929A>C (RAB3GAP1) NP_001165906.1:p.Pro643=
NM_012233.3:c.1929A>C (RAB3GAP1) MANE Select NP_036365.1:p.Pro643=