Canonical Allele Identifier: CA2661250827

Gene: RAB3GAP1 ZRANB3

Linked Data

• gnomAD v4: 2-135170077-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.135170077T>C , CM000664.2:g.135170077T>C	GRCh38
NC_000002.11:g.135927647T>C , CM000664.1:g.135927647T>C	GRCh37
NC_000002.10:g.135644117T>C	NCBI36
NG_016972.1:g.122813T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539493.3:c.2914+1328T>C (RAB3GAP1)	ENSP00000444306.2:n.2914+1328T>C
ENST00000685652.1:n.4881T>C (RAB3GAP1)
ENST00000685967.1:c.*3699T>C (RAB3GAP1)	ENSP00000508423.1:n.*3699T>C
ENST00000687199.1:c.*4331T>C (RAB3GAP1)	ENSP00000510319.1:n.*4331T>C
ENST00000688088.1:n.7424T>C (RAB3GAP1)
ENST00000688182.1:c.1704T>C (RAB3GAP1)	ENSP00000509324.1:n.1704T>C
ENST00000690208.1:c.*3920T>C (RAB3GAP1)	ENSP00000510746.1:n.*3920T>C
ENST00000691339.1:c.*3886T>C (RAB3GAP1)	ENSP00000509953.1:n.*3886T>C
ENST00000691478.1:c.*4341T>C (RAB3GAP1)	ENSP00000509081.1:n.*4341T>C
ENST00000692993.1:n.1821T>C (RAB3GAP1)
ENST00000693554.1:c.*2065T>C (RAB3GAP1)	ENSP00000509030.1:n.*2065T>C
ENST00000264158.13:c.*1296T>C (RAB3GAP1) MANE Select	ENSP00000264158.8:n.*1296T>C
ENST00000264158.12:c.*1296T>C (RAB3GAP1)	ENSP00000264158.7:n.*1296T>C
ENST00000412849.5:n.1782-4923A>G (ZRANB3)
ENST00000487003.5:n.3098+229T>C (RAB3GAP1)
ENST00000539493.2:c.2897+229T>C (RAB3GAP1)	ENSP00000444306.1:n.2897+229T>C
ENST00000619650.4:c.1618-4923A>G (ZRANB3)	ENSP00000480120.1:n.1618-4923A>G
NM_001172435.1:c.*1296T>C (RAB3GAP1)	NP_001165906.1:n.*1296T>C
NM_012233.2:c.*1296T>C (RAB3GAP1)	NP_036365.1:n.*1296T>C
XM_011510822.1:c.2935+1328T>C (RAB3GAP1)	XP_011509124.1:n.2935+1328T>C
XM_011510823.1:c.2914+1328T>C (RAB3GAP1)	XP_011509125.1:n.2914+1328T>C
XM_011510824.1:c.*318T>C (RAB3GAP1)	XP_011509126.1:n.*318T>C
XM_011510825.1:c.*318T>C (RAB3GAP1)	XP_011509127.1:n.*318T>C
XM_011510823.3:c.2914+1328T>C (RAB3GAP1)	XP_011509125.1:n.2914+1328T>C
XM_011510825.3:c.*318T>C (RAB3GAP1)	XP_011509127.1:n.*318T>C
XM_011511966.3:c.3049-4923A>G (ZRANB3)	XP_011510268.2:n.3049-4923A>G
XR_001738674.2:n.2941+1328T>C (RAB3GAP1)
NM_001172435.2:c.*1296T>C (RAB3GAP1)	NP_001165906.1:n.*1296T>C
NM_012233.3:c.*1296T>C (RAB3GAP1) MANE Select	NP_036365.1:n.*1296T>C