Canonical Allele Identifier: CA348578178

Gene: RAB3GAP1

Linked Data

• gnomAD v4: 2-135135889-C-A
• MyVariant Identifiers: chr2:g.135893459C>A (hg19) ; chr2:g.135135889C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.135135889C>A , CM000664.2:g.135135889C>A	GRCh38
NC_000002.11:g.135893459C>A , CM000664.1:g.135893459C>A	GRCh37
NC_000002.10:g.135609929C>A	NCBI36
NG_016972.1:g.88625C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539493.3:c.1880C>A	ENSP00000444306.2:p.Thr627Lys
ENST00000685967.1:c.*1337C>A	ENSP00000508423.1:n.*1337C>A
ENST00000686114.1:n.2226C>A
ENST00000687199.1:c.*1948C>A	ENSP00000510319.1:n.*1948C>A
ENST00000688088.1:n.1899C>A
ENST00000688182.1:c.151-31804C>A	ENSP00000509324.1:n.151-31804C>A
ENST00000689880.1:n.1899C>A
ENST00000690208.1:c.*1558C>A	ENSP00000510746.1:n.*1558C>A
ENST00000690785.1:n.1899C>A
ENST00000691339.1:c.*1503C>A	ENSP00000509953.1:n.*1503C>A
ENST00000691478.1:c.*1979C>A	ENSP00000509081.1:n.*1979C>A
ENST00000693554.1:c.1880C>A	ENSP00000509030.1:p.Thr627Lys
ENST00000264158.13:c.1880C>A MANE Select	ENSP00000264158.8:p.Thr627Lys
ENST00000264158.12:c.1880C>A	ENSP00000264158.7:p.Thr627Lys
ENST00000442034.5:c.1880C>A	ENSP00000411418.1:p.Thr627Lys
ENST00000487003.5:n.1949C>A
ENST00000539493.2:c.1748C>A	ENSP00000444306.1:p.Thr583Lys
NM_001172435.1:c.1880C>A	NP_001165906.1:p.Thr627Lys
NM_012233.2:c.1880C>A	NP_036365.1:p.Thr627Lys
XM_011510822.1:c.1880C>A	XP_011509124.1:p.Thr627Lys
XM_011510823.1:c.1880C>A	XP_011509125.1:p.Thr627Lys
XM_011510824.1:c.1880C>A	XP_011509126.1:p.Thr627Lys
XM_011510825.1:c.1880C>A	XP_011509127.1:p.Thr627Lys
XM_011510823.3:c.1880C>A	XP_011509125.1:p.Thr627Lys
XM_011510825.3:c.1880C>A	XP_011509127.1:p.Thr627Lys
XR_001738674.2:n.1907C>A
NM_001172435.2:c.1880C>A	NP_001165906.1:p.Thr627Lys
NM_012233.3:c.1880C>A MANE Select	NP_036365.1:p.Thr627Lys