Canonical Allele Identifier: CA1884903

Gene: RAB3GAP1

Linked Data

• ClinVar Variation Id: 2064632
• ClinVar RCV Id: RCV002953567
• dbSNP Id: rs747365496
• ExAC: 2:135893261 T / G
• gnomAD v2: 2-135893261-T-G
• gnomAD v3: 2-135135691-T-G
• gnomAD v4: 2-135135691-T-G
• MyVariant Identifiers: chr2:g.135893261T>G (hg19) ; chr2:g.135135691T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.135135691T>G , CM000664.2:g.135135691T>G	GRCh38
NC_000002.11:g.135893261T>G , CM000664.1:g.135893261T>G	GRCh37
NC_000002.10:g.135609731T>G	NCBI36
NG_016972.1:g.88427T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539493.3:c.1682T>G	ENSP00000444306.2:p.Leu561Arg
ENST00000685967.1:c.*1139T>G	ENSP00000508423.1:n.*1139T>G
ENST00000686114.1:n.2028T>G
ENST00000687199.1:c.*1750T>G	ENSP00000510319.1:n.*1750T>G
ENST00000688088.1:n.1701T>G
ENST00000688182.1:c.151-32002T>G	ENSP00000509324.1:n.151-32002T>G
ENST00000689880.1:n.1701T>G
ENST00000690208.1:c.*1360T>G	ENSP00000510746.1:n.*1360T>G
ENST00000690785.1:n.1701T>G
ENST00000691339.1:c.*1305T>G	ENSP00000509953.1:n.*1305T>G
ENST00000691478.1:c.*1781T>G	ENSP00000509081.1:n.*1781T>G
ENST00000693554.1:c.1682T>G	ENSP00000509030.1:p.Leu561Arg
ENST00000264158.13:c.1682T>G MANE Select	ENSP00000264158.8:p.Leu561Arg
ENST00000264158.12:c.1682T>G	ENSP00000264158.7:p.Leu561Arg
ENST00000442034.5:c.1682T>G	ENSP00000411418.1:p.Leu561Arg
ENST00000487003.5:n.1751T>G
ENST00000539493.2:c.1550T>G	ENSP00000444306.1:p.Leu517Arg
NM_001172435.1:c.1682T>G	NP_001165906.1:p.Leu561Arg
NM_012233.2:c.1682T>G	NP_036365.1:p.Leu561Arg
XM_011510822.1:c.1682T>G	XP_011509124.1:p.Leu561Arg
XM_011510823.1:c.1682T>G	XP_011509125.1:p.Leu561Arg
XM_011510824.1:c.1682T>G	XP_011509126.1:p.Leu561Arg
XM_011510825.1:c.1682T>G	XP_011509127.1:p.Leu561Arg
XM_011510823.3:c.1682T>G	XP_011509125.1:p.Leu561Arg
XM_011510825.3:c.1682T>G	XP_011509127.1:p.Leu561Arg
XR_001738674.2:n.1709T>G
NM_001172435.2:c.1682T>G	NP_001165906.1:p.Leu561Arg
NM_012233.3:c.1682T>G MANE Select	NP_036365.1:p.Leu561Arg