Canonical Allele Identifier: CA150635

Gene: RAB3GAP1

Linked Data

• ClinVar Variation Id: 100769
• ClinVar RCV Id: RCV000087133 ; RCV000520187
• dbSNP Id: rs587777152
• ExAC: 2:135883820 G / A
• gnomAD v2: 2-135883820-G-A
• gnomAD v3: 2-135126250-G-A
• gnomAD v4: 2-135126250-G-A
• MyVariant Identifiers: chr2:g.135883820G>A (hg19) ; chr2:g.135126250G>A (hg38)
• PubMed: PMID:8958326 ; PMID:23420520

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.135126250G>A , CM000664.2:g.135126250G>A	GRCh38
NC_000002.11:g.135883820G>A , CM000664.1:g.135883820G>A	GRCh37
NC_000002.10:g.135600290G>A	NCBI36
NG_016972.1:g.78986G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539493.3:c.899+1G>A	ENSP00000444306.2:n.899+1G>A
ENST00000685967.1:c.*356+1G>A	ENSP00000508423.1:n.*356+1G>A
ENST00000686114.1:n.913G>A
ENST00000687199.1:c.*967+1G>A	ENSP00000510319.1:n.*967+1G>A
ENST00000688088.1:n.918+1G>A
ENST00000688182.1:c.151-41443G>A	ENSP00000509324.1:n.151-41443G>A
ENST00000689880.1:n.918+1G>A
ENST00000690208.1:c.*577+1G>A	ENSP00000510746.1:n.*577+1G>A
ENST00000690785.1:n.918+1G>A
ENST00000691339.1:c.*522+1G>A	ENSP00000509953.1:n.*522+1G>A
ENST00000691478.1:c.*998+1G>A	ENSP00000509081.1:n.*998+1G>A
ENST00000693554.1:c.899+1G>A	ENSP00000509030.1:n.899+1G>A
ENST00000264158.13:c.899+1G>A MANE Select	ENSP00000264158.8:n.899+1G>A
ENST00000264158.12:c.899+1G>A	ENSP00000264158.7:n.899+1G>A
ENST00000442034.5:c.899+1G>A	ENSP00000411418.1:n.899+1G>A
ENST00000487003.5:n.968+1G>A
ENST00000489858.1:n.236+1G>A
ENST00000539493.2:c.767+1G>A	ENSP00000444306.1:n.767+1G>A
NM_001172435.1:c.899+1G>A	NP_001165906.1:n.899+1G>A
NM_012233.2:c.899+1G>A	NP_036365.1:n.899+1G>A
XM_011510822.1:c.899+1G>A	XP_011509124.1:n.899+1G>A
XM_011510823.1:c.899+1G>A	XP_011509125.1:n.899+1G>A
XM_011510824.1:c.899+1G>A	XP_011509126.1:n.899+1G>A
XM_011510825.1:c.899+1G>A	XP_011509127.1:n.899+1G>A
XM_011510823.3:c.899+1G>A	XP_011509125.1:n.899+1G>A
XM_011510825.3:c.899+1G>A	XP_011509127.1:n.899+1G>A
XR_001738674.2:n.926+1G>A
NM_001172435.2:c.899+1G>A	NP_001165906.1:n.899+1G>A
NM_012233.3:c.899+1G>A MANE Select	NP_036365.1:n.899+1G>A