Canonical Allele Identifier: CA154839

Gene: RAB3GAP1 ZRANB3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.135153852T>C , CM000664.2:g.135153852T>C	GRCh38
NC_000002.11:g.135911422T>C , CM000664.1:g.135911422T>C	GRCh37
NC_000002.10:g.135627892T>C	NCBI36
NG_016972.1:g.106588T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539493.3:c.2265T>C (RAB3GAP1)	ENSP00000444306.2:p.Phe755=
ENST00000685967.1:c.*1722T>C (RAB3GAP1)	ENSP00000508423.1:n.*1722T>C
ENST00000686114.1:n.2611T>C (RAB3GAP1)
ENST00000687199.1:c.*2333T>C (RAB3GAP1)	ENSP00000510319.1:n.*2333T>C
ENST00000687630.1:n.1897T>C (RAB3GAP1)
ENST00000688088.1:n.5426T>C (RAB3GAP1)
ENST00000688182.1:c.151-13841T>C (RAB3GAP1)	ENSP00000509324.1:n.151-13841T>C
ENST00000689880.1:n.2284T>C (RAB3GAP1)
ENST00000690208.1:c.*1943T>C (RAB3GAP1)	ENSP00000510746.1:n.*1943T>C
ENST00000690785.1:n.2284T>C (RAB3GAP1)
ENST00000691339.1:c.*1888T>C (RAB3GAP1)	ENSP00000509953.1:n.*1888T>C
ENST00000691478.1:c.*2364T>C (RAB3GAP1)	ENSP00000509081.1:n.*2364T>C
ENST00000693554.1:c.2265T>C (RAB3GAP1)	ENSP00000509030.1:p.Phe755=
ENST00000264158.13:c.2265T>C (RAB3GAP1) MANE Select	ENSP00000264158.8:p.Phe755=
ENST00000264158.12:c.2265T>C (RAB3GAP1)	ENSP00000264158.7:p.Phe755=
ENST00000412849.5:n.2007-858A>G (ZRANB3)
ENST00000442034.5:c.2265T>C (RAB3GAP1)	ENSP00000411418.1:p.Phe755=
ENST00000487003.5:n.2334T>C (RAB3GAP1)
ENST00000539493.2:c.2133T>C (RAB3GAP1)	ENSP00000444306.1:p.Phe711=
ENST00000619650.4:c.*46-858A>G (ZRANB3)	ENSP00000480120.1:n.*46-858A>G
NM_001172435.1:c.2265T>C (RAB3GAP1)	NP_001165906.1:p.Phe755=
NM_012233.2:c.2265T>C (RAB3GAP1)	NP_036365.1:p.Phe755=
XM_011510822.1:c.2265T>C (RAB3GAP1)	XP_011509124.1:p.Phe755=
XM_011510823.1:c.2265T>C (RAB3GAP1)	XP_011509125.1:p.Phe755=
XM_011510824.1:c.2265T>C (RAB3GAP1)	XP_011509126.1:p.Phe755=
XM_011510825.1:c.2265T>C (RAB3GAP1)	XP_011509127.1:p.Phe755=
XM_011510823.3:c.2265T>C (RAB3GAP1)	XP_011509125.1:p.Phe755=
XM_011510825.3:c.2265T>C (RAB3GAP1)	XP_011509127.1:p.Phe755=
XR_001738674.2:n.2292T>C (RAB3GAP1)
NM_001172435.2:c.2265T>C (RAB3GAP1)	NP_001165906.1:p.Phe755=
NM_012233.3:c.2265T>C (RAB3GAP1) MANE Select	NP_036365.1:p.Phe755=