Canonical Allele Identifier: CA154830

Gene: RAB3GAP1

Linked Data

• ClinVar Variation Id: 130063
• ClinVar RCV Id: RCV000118090 ; RCV000346473 ; RCV000878614
• dbSNP Id: rs114901298
• ExAC: 2:135890553 A / G
• gnomAD v2: 2-135890553-A-G
• gnomAD v3: 2-135132983-A-G
• gnomAD v4: 2-135132983-A-G
• MyVariant Identifiers: chr2:g.135890553A>G (hg19) ; chr2:g.135132983A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.135132983A>G , CM000664.2:g.135132983A>G	GRCh38
NC_000002.11:g.135890553A>G , CM000664.1:g.135890553A>G	GRCh37
NC_000002.10:g.135607023A>G	NCBI36
NG_016972.1:g.85719A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539493.3:c.1325A>G	ENSP00000444306.2:p.Tyr442Cys
ENST00000685967.1:c.*782A>G	ENSP00000508423.1:n.*782A>G
ENST00000686114.1:n.1671A>G
ENST00000687199.1:c.*1393A>G	ENSP00000510319.1:n.*1393A>G
ENST00000688088.1:n.1344A>G
ENST00000688182.1:c.151-34710A>G	ENSP00000509324.1:n.151-34710A>G
ENST00000689880.1:n.1344A>G
ENST00000690208.1:c.*1003A>G	ENSP00000510746.1:n.*1003A>G
ENST00000690785.1:n.1344A>G
ENST00000691339.1:c.*948A>G	ENSP00000509953.1:n.*948A>G
ENST00000691478.1:c.*1424A>G	ENSP00000509081.1:n.*1424A>G
ENST00000693554.1:c.1325A>G	ENSP00000509030.1:p.Tyr442Cys
ENST00000264158.13:c.1325A>G MANE Select	ENSP00000264158.8:p.Tyr442Cys
ENST00000264158.12:c.1325A>G	ENSP00000264158.7:p.Tyr442Cys
ENST00000442034.5:c.1325A>G	ENSP00000411418.1:p.Tyr442Cys
ENST00000487003.5:n.1394A>G
ENST00000539493.2:c.1193A>G	ENSP00000444306.1:p.Tyr398Cys
NM_001172435.1:c.1325A>G	NP_001165906.1:p.Tyr442Cys
NM_012233.2:c.1325A>G	NP_036365.1:p.Tyr442Cys
XM_011510822.1:c.1325A>G	XP_011509124.1:p.Tyr442Cys
XM_011510823.1:c.1325A>G	XP_011509125.1:p.Tyr442Cys
XM_011510824.1:c.1325A>G	XP_011509126.1:p.Tyr442Cys
XM_011510825.1:c.1325A>G	XP_011509127.1:p.Tyr442Cys
XM_011510823.3:c.1325A>G	XP_011509125.1:p.Tyr442Cys
XM_011510825.3:c.1325A>G	XP_011509127.1:p.Tyr442Cys
XR_001738674.2:n.1352A>G
NM_001172435.2:c.1325A>G	NP_001165906.1:p.Tyr442Cys
NM_012233.3:c.1325A>G MANE Select	NP_036365.1:p.Tyr442Cys