Canonical Allele Identifier: CA348577597

Gene: RAB3GAP1

Linked Data

• dbSNP Id: rs1162972758
• gnomAD v2: 2-135893321-G-T
• MyVariant Identifiers: chr2:g.135893321G>T (hg19) ; chr2:g.135135751G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.135135751G>T , CM000664.2:g.135135751G>T	GRCh38
NC_000002.11:g.135893321G>T , CM000664.1:g.135893321G>T	GRCh37
NC_000002.10:g.135609791G>T	NCBI36
NG_016972.1:g.88487G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000539493.3:c.1742G>T	ENSP00000444306.2:p.Ser581Ile
ENST00000685967.1:c.*1199G>T	ENSP00000508423.1:n.*1199G>T
ENST00000686114.1:n.2088G>T
ENST00000687199.1:c.*1810G>T	ENSP00000510319.1:n.*1810G>T
ENST00000688088.1:n.1761G>T
ENST00000688182.1:c.151-31942G>T	ENSP00000509324.1:n.151-31942G>T
ENST00000689880.1:n.1761G>T
ENST00000690208.1:c.*1420G>T	ENSP00000510746.1:n.*1420G>T
ENST00000690785.1:n.1761G>T
ENST00000691339.1:c.*1365G>T	ENSP00000509953.1:n.*1365G>T
ENST00000691478.1:c.*1841G>T	ENSP00000509081.1:n.*1841G>T
ENST00000693554.1:c.1742G>T	ENSP00000509030.1:p.Ser581Ile
ENST00000264158.13:c.1742G>T MANE Select	ENSP00000264158.8:p.Ser581Ile
ENST00000264158.12:c.1742G>T	ENSP00000264158.7:p.Ser581Ile
ENST00000442034.5:c.1742G>T	ENSP00000411418.1:p.Ser581Ile
ENST00000487003.5:n.1811G>T
ENST00000539493.2:c.1610G>T	ENSP00000444306.1:p.Ser537Ile
NM_001172435.1:c.1742G>T	NP_001165906.1:p.Ser581Ile
NM_012233.2:c.1742G>T	NP_036365.1:p.Ser581Ile
XM_011510822.1:c.1742G>T	XP_011509124.1:p.Ser581Ile
XM_011510823.1:c.1742G>T	XP_011509125.1:p.Ser581Ile
XM_011510824.1:c.1742G>T	XP_011509126.1:p.Ser581Ile
XM_011510825.1:c.1742G>T	XP_011509127.1:p.Ser581Ile
XM_011510823.3:c.1742G>T	XP_011509125.1:p.Ser581Ile
XM_011510825.3:c.1742G>T	XP_011509127.1:p.Ser581Ile
XR_001738674.2:n.1769G>T
NM_001172435.2:c.1742G>T	NP_001165906.1:p.Ser581Ile
NM_012233.3:c.1742G>T MANE Select	NP_036365.1:p.Ser581Ile