Canonical Allele Identifier: CA1884572

Gene: RAB3GAP1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.135115292C>T , CM000664.2:g.135115292C>T	GRCh38
NC_000002.11:g.135872862C>T , CM000664.1:g.135872862C>T	GRCh37
NC_000002.10:g.135589332C>T	NCBI36
NG_016972.1:g.68028C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_012233.3:c.559C>T MANE Select	NP_036365.1:p.Arg187Ter
ENST00000264158.13:c.559C>T MANE Select	ENSP00000264158.8:p.Arg187Ter
NM_001172435.1:c.559C>T	NP_001165906.1:p.Arg187Ter
NM_001172435.2:c.559C>T	NP_001165906.1:p.Arg187Ter
NM_012233.2:c.559C>T	NP_036365.1:p.Arg187Ter
ENST00000264158.12:c.559C>T	ENSP00000264158.7:p.Arg187Ter
ENST00000442034.5:c.559C>T	ENSP00000411418.1:p.Arg187Ter
ENST00000487003.5:n.628C>T
ENST00000539493.2:c.427C>T	ENSP00000444306.1:p.Arg143Ter
ENST00000539493.3:c.559C>T	ENSP00000444306.2:p.Arg187Ter
ENST00000685967.1:c.*105+2022C>T	ENSP00000508423.1:n.*105+2022C>T
ENST00000686114.1:n.572C>T
ENST00000687199.1:c.*627C>T	ENSP00000510319.1:n.*627C>T
ENST00000688088.1:n.578C>T
ENST00000688182.1:c.151-52401C>T	ENSP00000509324.1:n.151-52401C>T
ENST00000689880.1:n.578C>T
ENST00000690208.1:c.*237C>T	ENSP00000510746.1:n.*237C>T
ENST00000690785.1:n.578C>T
ENST00000691339.1:c.*182C>T	ENSP00000509953.1:n.*182C>T
ENST00000691478.1:c.*658C>T	ENSP00000509081.1:n.*658C>T
ENST00000693554.1:c.559C>T	ENSP00000509030.1:p.Arg187Ter
XM_011510822.1:c.559C>T	XP_011509124.1:p.Arg187Ter
XM_011510823.1:c.559C>T	XP_011509125.1:p.Arg187Ter
XM_011510823.3:c.559C>T	XP_011509125.1:p.Arg187Ter
XM_011510824.1:c.559C>T	XP_011509126.1:p.Arg187Ter
XM_011510825.1:c.559C>T	XP_011509127.1:p.Arg187Ter
XM_011510825.3:c.559C>T	XP_011509127.1:p.Arg187Ter
XR_001738674.2:n.586C>T