Canonical Allele Identifier: CA10612259

Gene: RAB3GAP1 ZRANB3

Linked Data

• ClinVar Variation Id: 331142
• ClinVar RCV Id: RCV000340454
• dbSNP Id: rs149483456
• gnomAD v2: 2-135926755-C-T
• gnomAD v3: 2-135169185-C-T
• gnomAD v4: 2-135169185-C-T
• MyVariant Identifiers: chr2:g.135926755C>T (hg19) ; chr2:g.135169185C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.135169185C>T , CM000664.2:g.135169185C>T	GRCh38
NC_000002.11:g.135926755C>T , CM000664.1:g.135926755C>T	GRCh37
NC_000002.10:g.135643225C>T	NCBI36
NG_016972.1:g.121921C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539493.3:c.2914+436C>T (RAB3GAP1)	ENSP00000444306.2:n.2914+436C>T
ENST00000685652.1:n.3989C>T (RAB3GAP1)
ENST00000685874.1:n.822C>T (RAB3GAP1)
ENST00000685967.1:c.*2807C>T (RAB3GAP1)	ENSP00000508423.1:n.*2807C>T
ENST00000687199.1:c.*3439C>T (RAB3GAP1)	ENSP00000510319.1:n.*3439C>T
ENST00000688088.1:n.6532C>T (RAB3GAP1)
ENST00000688182.1:c.812C>T (RAB3GAP1)	ENSP00000509324.1:n.812C>T
ENST00000689187.1:n.3023C>T (RAB3GAP1)
ENST00000690208.1:c.*3028C>T (RAB3GAP1)	ENSP00000510746.1:n.*3028C>T
ENST00000691339.1:c.*2994C>T (RAB3GAP1)	ENSP00000509953.1:n.*2994C>T
ENST00000691478.1:c.*3449C>T (RAB3GAP1)	ENSP00000509081.1:n.*3449C>T
ENST00000692993.1:n.929C>T (RAB3GAP1)
ENST00000693554.1:c.*1173C>T (RAB3GAP1)	ENSP00000509030.1:n.*1173C>T
ENST00000264158.13:c.*404C>T (RAB3GAP1) MANE Select	ENSP00000264158.8:n.*404C>T
ENST00000264158.12:c.*404C>T (RAB3GAP1)	ENSP00000264158.7:n.*404C>T
ENST00000412849.5:n.1782-4031G>A (ZRANB3)
ENST00000442034.5:c.*404C>T (RAB3GAP1)	ENSP00000411418.1:n.*404C>T
ENST00000487003.5:n.2983+436C>T (RAB3GAP1)
ENST00000497080.1:n.202+436C>T (RAB3GAP1)
ENST00000539493.2:c.2782+436C>T (RAB3GAP1)	ENSP00000444306.1:n.2782+436C>T
ENST00000619650.4:c.1618-4031G>A (ZRANB3)	ENSP00000480120.1:n.1618-4031G>A
NM_001172435.1:c.*404C>T (RAB3GAP1)	NP_001165906.1:n.*404C>T
NM_012233.2:c.*404C>T (RAB3GAP1)	NP_036365.1:n.*404C>T
XM_011510822.1:c.2935+436C>T (RAB3GAP1)	XP_011509124.1:n.2935+436C>T
XM_011510823.1:c.2914+436C>T (RAB3GAP1)	XP_011509125.1:n.2914+436C>T
XM_011510824.1:c.2935+436C>T (RAB3GAP1)	XP_011509126.1:n.2935+436C>T
XM_011510825.1:c.2914+436C>T (RAB3GAP1)	XP_011509127.1:n.2914+436C>T
XM_011510823.3:c.2914+436C>T (RAB3GAP1)	XP_011509125.1:n.2914+436C>T
XM_011510825.3:c.2914+436C>T (RAB3GAP1)	XP_011509127.1:n.2914+436C>T
XM_011511966.3:c.3049-4031G>A (ZRANB3)	XP_011510268.2:n.3049-4031G>A
XR_001738674.2:n.2941+436C>T (RAB3GAP1)
NM_001172435.2:c.*404C>T (RAB3GAP1)	NP_001165906.1:n.*404C>T
NM_012233.3:c.*404C>T (RAB3GAP1) MANE Select	NP_036365.1:n.*404C>T