Canonical Allele Identifier: CA1885243

Gene: RAB3GAP1 ZRANB3

Linked Data

• ClinVar Variation Id: 331145
• ClinVar RCV Id: RCV000355814
• dbSNP Id: rs116237324
• ExAC: 2:135927346 T / C
• gnomAD v2: 2-135927346-T-C
• gnomAD v3: 2-135169776-T-C
• gnomAD v4: 2-135169776-T-C
• MyVariant Identifiers: chr2:g.135927346T>C (hg19) ; chr2:g.135169776T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.135169776T>C , CM000664.2:g.135169776T>C	GRCh38
NC_000002.11:g.135927346T>C , CM000664.1:g.135927346T>C	GRCh37
NC_000002.10:g.135643816T>C	NCBI36
NG_016972.1:g.122512T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539493.3:c.2914+1027T>C (RAB3GAP1)	ENSP00000444306.2:n.2914+1027T>C
ENST00000685652.1:n.4580T>C (RAB3GAP1)
ENST00000685874.1:n.1413T>C (RAB3GAP1)
ENST00000685967.1:c.*3398T>C (RAB3GAP1)	ENSP00000508423.1:n.*3398T>C
ENST00000687199.1:c.*4030T>C (RAB3GAP1)	ENSP00000510319.1:n.*4030T>C
ENST00000688088.1:n.7123T>C (RAB3GAP1)
ENST00000688182.1:c.1403T>C (RAB3GAP1)	ENSP00000509324.1:n.1403T>C
ENST00000689187.1:n.3614T>C (RAB3GAP1)
ENST00000690208.1:c.*3619T>C (RAB3GAP1)	ENSP00000510746.1:n.*3619T>C
ENST00000691339.1:c.*3585T>C (RAB3GAP1)	ENSP00000509953.1:n.*3585T>C
ENST00000691478.1:c.*4040T>C (RAB3GAP1)	ENSP00000509081.1:n.*4040T>C
ENST00000692993.1:n.1520T>C (RAB3GAP1)
ENST00000693554.1:c.*1764T>C (RAB3GAP1)	ENSP00000509030.1:n.*1764T>C
ENST00000264158.13:c.*995T>C (RAB3GAP1) MANE Select	ENSP00000264158.8:n.*995T>C
ENST00000264158.12:c.*995T>C (RAB3GAP1)	ENSP00000264158.7:n.*995T>C
ENST00000412849.5:n.1782-4622A>G (ZRANB3)
ENST00000442034.5:c.*995T>C (RAB3GAP1)	ENSP00000411418.1:n.*995T>C
ENST00000487003.5:n.3026T>C (RAB3GAP1)
ENST00000497080.1:n.245T>C (RAB3GAP1)
ENST00000539493.2:c.2825T>C (RAB3GAP1)	ENSP00000444306.1:n.2825T>C
ENST00000619650.4:c.1618-4622A>G (ZRANB3)	ENSP00000480120.1:n.1618-4622A>G
NM_001172435.1:c.*995T>C (RAB3GAP1)	NP_001165906.1:n.*995T>C
NM_012233.2:c.*995T>C (RAB3GAP1)	NP_036365.1:n.*995T>C
XM_011510822.1:c.2935+1027T>C (RAB3GAP1)	XP_011509124.1:n.2935+1027T>C
XM_011510823.1:c.2914+1027T>C (RAB3GAP1)	XP_011509125.1:n.2914+1027T>C
XM_011510824.1:c.*17T>C (RAB3GAP1)	XP_011509126.1:n.*17T>C
XM_011510825.1:c.*17T>C (RAB3GAP1)	XP_011509127.1:n.*17T>C
XM_011510823.3:c.2914+1027T>C (RAB3GAP1)	XP_011509125.1:n.2914+1027T>C
XM_011510825.3:c.*17T>C (RAB3GAP1)	XP_011509127.1:n.*17T>C
XM_011511966.3:c.3049-4622A>G (ZRANB3)	XP_011510268.2:n.3049-4622A>G
XR_001738674.2:n.2941+1027T>C (RAB3GAP1)
NM_001172435.2:c.*995T>C (RAB3GAP1)	NP_001165906.1:n.*995T>C
NM_012233.3:c.*995T>C (RAB3GAP1) MANE Select	NP_036365.1:n.*995T>C