Canonical Allele Identifier: CA348577044

Gene: RAB3GAP1

Linked Data

• gnomAD v4: 2-135135640-T-C
• MyVariant Identifiers: chr2:g.135893210T>C (hg19) ; chr2:g.135135640T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.135135640T>C , CM000664.2:g.135135640T>C	GRCh38
NC_000002.11:g.135893210T>C , CM000664.1:g.135893210T>C	GRCh37
NC_000002.10:g.135609680T>C	NCBI36
NG_016972.1:g.88376T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539493.3:c.1631T>C	ENSP00000444306.2:p.Ile544Thr
ENST00000685967.1:c.*1088T>C	ENSP00000508423.1:n.*1088T>C
ENST00000686114.1:n.1977T>C
ENST00000687199.1:c.*1699T>C	ENSP00000510319.1:n.*1699T>C
ENST00000688088.1:n.1650T>C
ENST00000688182.1:c.151-32053T>C	ENSP00000509324.1:n.151-32053T>C
ENST00000689880.1:n.1650T>C
ENST00000690208.1:c.*1309T>C	ENSP00000510746.1:n.*1309T>C
ENST00000690785.1:n.1650T>C
ENST00000691339.1:c.*1254T>C	ENSP00000509953.1:n.*1254T>C
ENST00000691478.1:c.*1730T>C	ENSP00000509081.1:n.*1730T>C
ENST00000693554.1:c.1631T>C	ENSP00000509030.1:p.Ile544Thr
ENST00000264158.13:c.1631T>C MANE Select	ENSP00000264158.8:p.Ile544Thr
ENST00000264158.12:c.1631T>C	ENSP00000264158.7:p.Ile544Thr
ENST00000442034.5:c.1631T>C	ENSP00000411418.1:p.Ile544Thr
ENST00000487003.5:n.1700T>C
ENST00000539493.2:c.1499T>C	ENSP00000444306.1:p.Ile500Thr
NM_001172435.1:c.1631T>C	NP_001165906.1:p.Ile544Thr
NM_012233.2:c.1631T>C	NP_036365.1:p.Ile544Thr
XM_011510822.1:c.1631T>C	XP_011509124.1:p.Ile544Thr
XM_011510823.1:c.1631T>C	XP_011509125.1:p.Ile544Thr
XM_011510824.1:c.1631T>C	XP_011509126.1:p.Ile544Thr
XM_011510825.1:c.1631T>C	XP_011509127.1:p.Ile544Thr
XM_011510823.3:c.1631T>C	XP_011509125.1:p.Ile544Thr
XM_011510825.3:c.1631T>C	XP_011509127.1:p.Ile544Thr
XR_001738674.2:n.1658T>C
NM_001172435.2:c.1631T>C	NP_001165906.1:p.Ile544Thr
NM_012233.3:c.1631T>C MANE Select	NP_036365.1:p.Ile544Thr