Canonical Allele Identifier: CA1290527850

Gene: RAB3GAP1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.135135794T= , CM000664.2:g.135135794T=	GRCh38
NC_000002.11:g.135893364T= , CM000664.1:g.135893364T=	GRCh37
NC_000002.10:g.135609834T=	NCBI36
NG_016972.1:g.88530T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539493.3:c.1785T=	ENSP00000444306.2:p.Leu595=
ENST00000685967.1:c.*1242T=	ENSP00000508423.1:n.*1242T=
ENST00000686114.1:n.2131T=
ENST00000687199.1:c.*1853T=	ENSP00000510319.1:n.*1853T=
ENST00000688088.1:n.1804T=
ENST00000688182.1:c.151-31899T=	ENSP00000509324.1:n.151-31899T=
ENST00000689880.1:n.1804T=
ENST00000690208.1:c.*1463T=	ENSP00000510746.1:n.*1463T=
ENST00000690785.1:n.1804T=
ENST00000691339.1:c.*1408T=	ENSP00000509953.1:n.*1408T=
ENST00000691478.1:c.*1884T=	ENSP00000509081.1:n.*1884T=
ENST00000693554.1:c.1785T=	ENSP00000509030.1:p.Leu595=
ENST00000264158.13:c.1785T= MANE Select	ENSP00000264158.8:p.Leu595=
ENST00000264158.12:c.1785T=	ENSP00000264158.7:p.Leu595=
ENST00000442034.5:c.1785T=	ENSP00000411418.1:p.Leu595=
ENST00000487003.5:n.1854T=
ENST00000539493.2:c.1653T=	ENSP00000444306.1:p.Leu551=
NM_001172435.1:c.1785T=	NP_001165906.1:p.Leu595=
NM_012233.2:c.1785T=	NP_036365.1:p.Leu595=
XM_011510822.1:c.1785T=	XP_011509124.1:p.Leu595=
XM_011510823.1:c.1785T=	XP_011509125.1:p.Leu595=
XM_011510824.1:c.1785T=	XP_011509126.1:p.Leu595=
XM_011510825.1:c.1785T=	XP_011509127.1:p.Leu595=
XM_011510823.3:c.1785T=	XP_011509125.1:p.Leu595=
XM_011510825.3:c.1785T=	XP_011509127.1:p.Leu595=
XR_001738674.2:n.1812T=
NM_001172435.2:c.1785T=	NP_001165906.1:p.Leu595=
NM_012233.3:c.1785T= MANE Select	NP_036365.1:p.Leu595=