Canonical Allele Identifier: CA118601

Gene: RAB3GAP1 ZRANB3

Linked Data

• ClinVar Variation Id: 7059
• ClinVar RCV Id: RCV000007475
• dbSNP Id: rs137853052
• gnomAD v4: 2-135150456-C-T
• MyVariant Identifiers: chr2:g.135908026C>T (hg19) ; chr2:g.135150456C>T (hg38)
• PubMed: PMID:10465117 ; PMID:15696165 ; PMID:18286824

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.135150456C>T , CM000664.2:g.135150456C>T	GRCh38
NC_000002.11:g.135908026C>T , CM000664.1:g.135908026C>T	GRCh37
NC_000002.10:g.135624496C>T	NCBI36
NG_016972.1:g.103192C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000539493.3:c.2011C>T (RAB3GAP1)	ENSP00000444306.2:p.Arg671Ter
ENST00000685967.1:c.*1468C>T (RAB3GAP1)	ENSP00000508423.1:n.*1468C>T
ENST00000686114.1:n.2357C>T (RAB3GAP1)
ENST00000687199.1:c.*2079C>T (RAB3GAP1)	ENSP00000510319.1:n.*2079C>T
ENST00000687630.1:n.1643C>T (RAB3GAP1)
ENST00000688088.1:n.2030C>T (RAB3GAP1)
ENST00000688182.1:c.151-17237C>T (RAB3GAP1)	ENSP00000509324.1:n.151-17237C>T
ENST00000689880.1:n.2030C>T (RAB3GAP1)
ENST00000690208.1:c.*1689C>T (RAB3GAP1)	ENSP00000510746.1:n.*1689C>T
ENST00000690785.1:n.2030C>T (RAB3GAP1)
ENST00000691339.1:c.*1634C>T (RAB3GAP1)	ENSP00000509953.1:n.*1634C>T
ENST00000691478.1:c.*2110C>T (RAB3GAP1)	ENSP00000509081.1:n.*2110C>T
ENST00000693554.1:c.2011C>T (RAB3GAP1)	ENSP00000509030.1:p.Arg671Ter
ENST00000264158.13:c.2011C>T (RAB3GAP1) MANE Select	ENSP00000264158.8:p.Arg671Ter
ENST00000264158.12:c.2011C>T (RAB3GAP1)	ENSP00000264158.7:p.Arg671Ter
ENST00000412849.5:n.2140+2405G>A (ZRANB3)
ENST00000442034.5:c.2011C>T (RAB3GAP1)	ENSP00000411418.1:p.Arg671Ter
ENST00000487003.5:n.2080C>T (RAB3GAP1)
ENST00000539493.2:c.1879C>T (RAB3GAP1)	ENSP00000444306.1:p.Arg627Ter
ENST00000619650.4:c.*179+2405G>A (ZRANB3)	ENSP00000480120.1:n.*179+2405G>A
NM_001172435.1:c.2011C>T (RAB3GAP1)	NP_001165906.1:p.Arg671Ter
NM_012233.2:c.2011C>T (RAB3GAP1)	NP_036365.1:p.Arg671Ter
XM_011510822.1:c.2011C>T (RAB3GAP1)	XP_011509124.1:p.Arg671Ter
XM_011510823.1:c.2011C>T (RAB3GAP1)	XP_011509125.1:p.Arg671Ter
XM_011510824.1:c.2011C>T (RAB3GAP1)	XP_011509126.1:p.Arg671Ter
XM_011510825.1:c.2011C>T (RAB3GAP1)	XP_011509127.1:p.Arg671Ter
XM_011510823.3:c.2011C>T (RAB3GAP1)	XP_011509125.1:p.Arg671Ter
XM_011510825.3:c.2011C>T (RAB3GAP1)	XP_011509127.1:p.Arg671Ter
XR_001738674.2:n.2038C>T (RAB3GAP1)
NM_001172435.2:c.2011C>T (RAB3GAP1)	NP_001165906.1:p.Arg671Ter
NM_012233.3:c.2011C>T (RAB3GAP1) MANE Select	NP_036365.1:p.Arg671Ter