Canonical Allele Identifier: CA118605

Gene: RAB3GAP1

Linked Data

• ClinVar Variation Id: 7061
• ClinVar RCV Id: RCV000007477
• dbSNP Id: rs267606996
• MyVariant Identifiers: chr2:g.135891514C>A (hg19) ; chr2:g.135133944C>A (hg38)
• PubMed: PMID:20512159

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.135133944C>A , CM000664.2:g.135133944C>A	GRCh38
NC_000002.11:g.135891514C>A , CM000664.1:g.135891514C>A	GRCh37
NC_000002.10:g.135607984C>A	NCBI36
NG_016972.1:g.86680C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539493.3:c.1410C>A	ENSP00000444306.2:p.Tyr470Ter
ENST00000685967.1:c.*867C>A	ENSP00000508423.1:n.*867C>A
ENST00000686114.1:n.1756C>A
ENST00000687199.1:c.*1478C>A	ENSP00000510319.1:n.*1478C>A
ENST00000688088.1:n.1429C>A
ENST00000688182.1:c.151-33749C>A	ENSP00000509324.1:n.151-33749C>A
ENST00000689880.1:n.1429C>A
ENST00000690208.1:c.*1088C>A	ENSP00000510746.1:n.*1088C>A
ENST00000690785.1:n.1429C>A
ENST00000691339.1:c.*1033C>A	ENSP00000509953.1:n.*1033C>A
ENST00000691478.1:c.*1509C>A	ENSP00000509081.1:n.*1509C>A
ENST00000693554.1:c.1410C>A	ENSP00000509030.1:p.Tyr470Ter
ENST00000264158.13:c.1410C>A MANE Select	ENSP00000264158.8:p.Tyr470Ter
ENST00000264158.12:c.1410C>A	ENSP00000264158.7:p.Tyr470Ter
ENST00000442034.5:c.1410C>A	ENSP00000411418.1:p.Tyr470Ter
ENST00000487003.5:n.1479C>A
ENST00000539493.2:c.1278C>A	ENSP00000444306.1:p.Tyr426Ter
NM_001172435.1:c.1410C>A	NP_001165906.1:p.Tyr470Ter
NM_012233.2:c.1410C>A	NP_036365.1:p.Tyr470Ter
XM_011510822.1:c.1410C>A	XP_011509124.1:p.Tyr470Ter
XM_011510823.1:c.1410C>A	XP_011509125.1:p.Tyr470Ter
XM_011510824.1:c.1410C>A	XP_011509126.1:p.Tyr470Ter
XM_011510825.1:c.1410C>A	XP_011509127.1:p.Tyr470Ter
XM_011510823.3:c.1410C>A	XP_011509125.1:p.Tyr470Ter
XM_011510825.3:c.1410C>A	XP_011509127.1:p.Tyr470Ter
XR_001738674.2:n.1437C>A
NM_001172435.2:c.1410C>A	NP_001165906.1:p.Tyr470Ter
NM_012233.3:c.1410C>A MANE Select	NP_036365.1:p.Tyr470Ter