Canonical Allele Identifier: CA1885210

Gene: RAB3GAP1 ZRANB3

Linked Data

• ClinVar Variation Id: 436464
• ClinVar RCV Id: RCV000500116 ; RCV001132508 ; RCV000766903 ; RCV003243158
• dbSNP Id: rs751620093
• ExAC: 2:135926244 C / T
• gnomAD v2: 2-135926244-C-T
• gnomAD v3: 2-135168674-C-T
• gnomAD v4: 2-135168674-C-T
• MyVariant Identifiers: chr2:g.135926244C>T (hg19) ; chr2:g.135168674C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.135168674C>T , CM000664.2:g.135168674C>T	GRCh38
NC_000002.11:g.135926244C>T , CM000664.1:g.135926244C>T	GRCh37
NC_000002.10:g.135642714C>T	NCBI36
NG_016972.1:g.121410C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539493.3:c.2839C>T (RAB3GAP1)	ENSP00000444306.2:p.Arg947Cys
ENST00000685652.1:n.3478C>T (RAB3GAP1)
ENST00000685874.1:n.311C>T (RAB3GAP1)
ENST00000685967.1:c.*2296C>T (RAB3GAP1)	ENSP00000508423.1:n.*2296C>T
ENST00000687199.1:c.*2928C>T (RAB3GAP1)	ENSP00000510319.1:n.*2928C>T
ENST00000688088.1:n.6021C>T (RAB3GAP1)
ENST00000688182.1:c.301C>T (RAB3GAP1)	ENSP00000509324.1:p.Arg101Cys
ENST00000689187.1:n.2512C>T (RAB3GAP1)
ENST00000690208.1:c.*2517C>T (RAB3GAP1)	ENSP00000510746.1:n.*2517C>T
ENST00000691339.1:c.*2483C>T (RAB3GAP1)	ENSP00000509953.1:n.*2483C>T
ENST00000691478.1:c.*2938C>T (RAB3GAP1)	ENSP00000509081.1:n.*2938C>T
ENST00000692993.1:n.418C>T (RAB3GAP1)
ENST00000693554.1:c.*662C>T (RAB3GAP1)	ENSP00000509030.1:n.*662C>T
ENST00000264158.13:c.2839C>T (RAB3GAP1) MANE Select	ENSP00000264158.8:p.Arg947Cys
ENST00000264158.12:c.2839C>T (RAB3GAP1)	ENSP00000264158.7:p.Arg947Cys
ENST00000412849.5:n.1782-3520G>A (ZRANB3)
ENST00000442034.5:c.2860C>T (RAB3GAP1)	ENSP00000411418.1:p.Arg954Cys
ENST00000487003.5:n.2908C>T (RAB3GAP1)
ENST00000497080.1:n.127C>T (RAB3GAP1)
ENST00000539493.2:c.2707C>T (RAB3GAP1)	ENSP00000444306.1:p.Arg903Cys
ENST00000619650.4:c.1618-3520G>A (ZRANB3)	ENSP00000480120.1:n.1618-3520G>A
NM_001172435.1:c.2860C>T (RAB3GAP1)	NP_001165906.1:p.Arg954Cys
NM_012233.2:c.2839C>T (RAB3GAP1)	NP_036365.1:p.Arg947Cys
XM_011510822.1:c.2860C>T (RAB3GAP1)	XP_011509124.1:p.Arg954Cys
XM_011510823.1:c.2839C>T (RAB3GAP1)	XP_011509125.1:p.Arg947Cys
XM_011510824.1:c.2860C>T (RAB3GAP1)	XP_011509126.1:p.Arg954Cys
XM_011510825.1:c.2839C>T (RAB3GAP1)	XP_011509127.1:p.Arg947Cys
XM_011510823.3:c.2839C>T (RAB3GAP1)	XP_011509125.1:p.Arg947Cys
XM_011510825.3:c.2839C>T (RAB3GAP1)	XP_011509127.1:p.Arg947Cys
XM_011511966.3:c.3049-3520G>A (ZRANB3)	XP_011510268.2:n.3049-3520G>A
XR_001738674.2:n.2866C>T (RAB3GAP1)
NM_001172435.2:c.2860C>T (RAB3GAP1)	NP_001165906.1:p.Arg954Cys
NM_012233.3:c.2839C>T (RAB3GAP1) MANE Select	NP_036365.1:p.Arg947Cys