Canonical Allele Identifier: CA10612124

Gene: RAB3GAP1 ZRANB3

Linked Data

• ClinVar Variation Id: 331141
• ClinVar RCV Id: RCV000304265
• dbSNP Id: rs534792972
• gnomAD v3: 2-135169127-G-A
• gnomAD v4: 2-135169127-G-A
• MyVariant Identifiers: chr2:g.135926697G>A (hg19) ; chr2:g.135169127G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.135169127G>A , CM000664.2:g.135169127G>A	GRCh38
NC_000002.11:g.135926697G>A , CM000664.1:g.135926697G>A	GRCh37
NC_000002.10:g.135643167G>A	NCBI36
NG_016972.1:g.121863G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539493.3:c.2914+378G>A (RAB3GAP1)	ENSP00000444306.2:n.2914+378G>A
ENST00000685652.1:n.3931G>A (RAB3GAP1)
ENST00000685874.1:n.764G>A (RAB3GAP1)
ENST00000685967.1:c.*2749G>A (RAB3GAP1)	ENSP00000508423.1:n.*2749G>A
ENST00000687199.1:c.*3381G>A (RAB3GAP1)	ENSP00000510319.1:n.*3381G>A
ENST00000688088.1:n.6474G>A (RAB3GAP1)
ENST00000688182.1:c.754G>A (RAB3GAP1)	ENSP00000509324.1:n.754G>A
ENST00000689187.1:n.2965G>A (RAB3GAP1)
ENST00000690208.1:c.*2970G>A (RAB3GAP1)	ENSP00000510746.1:n.*2970G>A
ENST00000691339.1:c.*2936G>A (RAB3GAP1)	ENSP00000509953.1:n.*2936G>A
ENST00000691478.1:c.*3391G>A (RAB3GAP1)	ENSP00000509081.1:n.*3391G>A
ENST00000692993.1:n.871G>A (RAB3GAP1)
ENST00000693554.1:c.*1115G>A (RAB3GAP1)	ENSP00000509030.1:n.*1115G>A
ENST00000264158.13:c.*346G>A (RAB3GAP1) MANE Select	ENSP00000264158.8:n.*346G>A
ENST00000264158.12:c.*346G>A (RAB3GAP1)	ENSP00000264158.7:n.*346G>A
ENST00000412849.5:n.1782-3973C>T (ZRANB3)
ENST00000442034.5:c.*346G>A (RAB3GAP1)	ENSP00000411418.1:n.*346G>A
ENST00000487003.5:n.2983+378G>A (RAB3GAP1)
ENST00000497080.1:n.202+378G>A (RAB3GAP1)
ENST00000539493.2:c.2782+378G>A (RAB3GAP1)	ENSP00000444306.1:n.2782+378G>A
ENST00000619650.4:c.1618-3973C>T (ZRANB3)	ENSP00000480120.1:n.1618-3973C>T
NM_001172435.1:c.*346G>A (RAB3GAP1)	NP_001165906.1:n.*346G>A
NM_012233.2:c.*346G>A (RAB3GAP1)	NP_036365.1:n.*346G>A
XM_011510822.1:c.2935+378G>A (RAB3GAP1)	XP_011509124.1:n.2935+378G>A
XM_011510823.1:c.2914+378G>A (RAB3GAP1)	XP_011509125.1:n.2914+378G>A
XM_011510824.1:c.2935+378G>A (RAB3GAP1)	XP_011509126.1:n.2935+378G>A
XM_011510825.1:c.2914+378G>A (RAB3GAP1)	XP_011509127.1:n.2914+378G>A
XM_011510823.3:c.2914+378G>A (RAB3GAP1)	XP_011509125.1:n.2914+378G>A
XM_011510825.3:c.2914+378G>A (RAB3GAP1)	XP_011509127.1:n.2914+378G>A
XM_011511966.3:c.3049-3973C>T (ZRANB3)	XP_011510268.2:n.3049-3973C>T
XR_001738674.2:n.2941+378G>A (RAB3GAP1)
NM_001172435.2:c.*346G>A (RAB3GAP1)	NP_001165906.1:n.*346G>A
NM_012233.3:c.*346G>A (RAB3GAP1) MANE Select	NP_036365.1:n.*346G>A