Canonical Allele Identifier: CA348574752

Gene: RAB3GAP1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.135132899T>G , CM000664.2:g.135132899T>G	GRCh38
NC_000002.11:g.135890469T>G , CM000664.1:g.135890469T>G	GRCh37
NC_000002.10:g.135606939T>G	NCBI36
NG_016972.1:g.85635T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_012233.3:c.1241T>G MANE Select	NP_036365.1:p.Leu414Ter
ENST00000264158.13:c.1241T>G MANE Select	ENSP00000264158.8:p.Leu414Ter
NM_001172435.1:c.1241T>G	NP_001165906.1:p.Leu414Ter
NM_001172435.2:c.1241T>G	NP_001165906.1:p.Leu414Ter
NM_012233.2:c.1241T>G	NP_036365.1:p.Leu414Ter
ENST00000264158.12:c.1241T>G	ENSP00000264158.7:p.Leu414Ter
ENST00000442034.5:c.1241T>G	ENSP00000411418.1:p.Leu414Ter
ENST00000487003.5:n.1310T>G
ENST00000539493.2:c.1109T>G	ENSP00000444306.1:p.Leu370Ter
ENST00000539493.3:c.1241T>G	ENSP00000444306.2:p.Leu414Ter
ENST00000685967.1:c.*698T>G	ENSP00000508423.1:n.*698T>G
ENST00000686114.1:n.1587T>G
ENST00000687199.1:c.*1309T>G	ENSP00000510319.1:n.*1309T>G
ENST00000688088.1:n.1260T>G
ENST00000688182.1:c.151-34794T>G	ENSP00000509324.1:n.151-34794T>G
ENST00000689880.1:n.1260T>G
ENST00000690208.1:c.*919T>G	ENSP00000510746.1:n.*919T>G
ENST00000690785.1:n.1260T>G
ENST00000691339.1:c.*864T>G	ENSP00000509953.1:n.*864T>G
ENST00000691478.1:c.*1340T>G	ENSP00000509081.1:n.*1340T>G
ENST00000693554.1:c.1241T>G	ENSP00000509030.1:p.Leu414Ter
XM_011510822.1:c.1241T>G	XP_011509124.1:p.Leu414Ter
XM_011510823.1:c.1241T>G	XP_011509125.1:p.Leu414Ter
XM_011510823.3:c.1241T>G	XP_011509125.1:p.Leu414Ter
XM_011510824.1:c.1241T>G	XP_011509126.1:p.Leu414Ter
XM_011510825.1:c.1241T>G	XP_011509127.1:p.Leu414Ter
XM_011510825.3:c.1241T>G	XP_011509127.1:p.Leu414Ter
XR_001738674.2:n.1268T>G