Canonical Allele Identifier: CA1884900

Gene: RAB3GAP1

Linked Data

• dbSNP Id: rs745596475
• ExAC: 2:135893251 C / A
• gnomAD v2: 2-135893251-C-A
• gnomAD v4: 2-135135681-C-A
• MyVariant Identifiers: chr2:g.135893251C>A (hg19) ; chr2:g.135135681C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.135135681C>A , CM000664.2:g.135135681C>A	GRCh38
NC_000002.11:g.135893251C>A , CM000664.1:g.135893251C>A	GRCh37
NC_000002.10:g.135609721C>A	NCBI36
NG_016972.1:g.88417C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539493.3:c.1672C>A	ENSP00000444306.2:p.Pro558Thr
ENST00000685967.1:c.*1129C>A	ENSP00000508423.1:n.*1129C>A
ENST00000686114.1:n.2018C>A
ENST00000687199.1:c.*1740C>A	ENSP00000510319.1:n.*1740C>A
ENST00000688088.1:n.1691C>A
ENST00000688182.1:c.151-32012C>A	ENSP00000509324.1:n.151-32012C>A
ENST00000689880.1:n.1691C>A
ENST00000690208.1:c.*1350C>A	ENSP00000510746.1:n.*1350C>A
ENST00000690785.1:n.1691C>A
ENST00000691339.1:c.*1295C>A	ENSP00000509953.1:n.*1295C>A
ENST00000691478.1:c.*1771C>A	ENSP00000509081.1:n.*1771C>A
ENST00000693554.1:c.1672C>A	ENSP00000509030.1:p.Pro558Thr
ENST00000264158.13:c.1672C>A MANE Select	ENSP00000264158.8:p.Pro558Thr
ENST00000264158.12:c.1672C>A	ENSP00000264158.7:p.Pro558Thr
ENST00000442034.5:c.1672C>A	ENSP00000411418.1:p.Pro558Thr
ENST00000487003.5:n.1741C>A
ENST00000539493.2:c.1540C>A	ENSP00000444306.1:p.Pro514Thr
NM_001172435.1:c.1672C>A	NP_001165906.1:p.Pro558Thr
NM_012233.2:c.1672C>A	NP_036365.1:p.Pro558Thr
XM_011510822.1:c.1672C>A	XP_011509124.1:p.Pro558Thr
XM_011510823.1:c.1672C>A	XP_011509125.1:p.Pro558Thr
XM_011510824.1:c.1672C>A	XP_011509126.1:p.Pro558Thr
XM_011510825.1:c.1672C>A	XP_011509127.1:p.Pro558Thr
XM_011510823.3:c.1672C>A	XP_011509125.1:p.Pro558Thr
XM_011510825.3:c.1672C>A	XP_011509127.1:p.Pro558Thr
XR_001738674.2:n.1699C>A
NM_001172435.2:c.1672C>A	NP_001165906.1:p.Pro558Thr
NM_012233.3:c.1672C>A MANE Select	NP_036365.1:p.Pro558Thr