Canonical Allele Identifier: CA1884467

Gene: RAB3GAP1

Linked Data

• ClinVar Variation Id: 331118
• ClinVar RCV Id: RCV000322579 ; RCV002521286 ; RCV004544606
• dbSNP Id: rs767842373
• ExAC: 2:135848656 T / C
• gnomAD v2: 2-135848656-T-C
• gnomAD v3: 2-135091086-T-C
• gnomAD v4: 2-135091086-T-C
• MyVariant Identifiers: chr2:g.135848656T>C (hg19) ; chr2:g.135091086T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.135091086T>C , CM000664.2:g.135091086T>C	GRCh38
NC_000002.11:g.135848656T>C , CM000664.1:g.135848656T>C	GRCh37
NC_000002.10:g.135565126T>C	NCBI36
NG_016972.1:g.43822T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539493.3:c.239T>C	ENSP00000444306.2:p.Val80Ala
ENST00000685967.1:c.151-22065T>C	ENSP00000508423.1:n.151-22065T>C
ENST00000686114.1:n.252T>C
ENST00000687199.1:c.*307T>C	ENSP00000510319.1:n.*307T>C
ENST00000688088.1:n.258T>C
ENST00000688182.1:c.150+33000T>C	ENSP00000509324.1:n.150+33000T>C
ENST00000689880.1:n.258T>C
ENST00000690208.1:c.151-2529T>C	ENSP00000510746.1:n.151-2529T>C
ENST00000690785.1:n.258T>C
ENST00000691339.1:c.151-22065T>C	ENSP00000509953.1:n.151-22065T>C
ENST00000691478.1:c.*338T>C	ENSP00000509081.1:n.*338T>C
ENST00000693554.1:c.239T>C	ENSP00000509030.1:p.Val80Ala
ENST00000264158.13:c.239T>C MANE Select	ENSP00000264158.8:p.Val80Ala
ENST00000264158.12:c.239T>C	ENSP00000264158.7:p.Val80Ala
ENST00000442034.5:c.239T>C	ENSP00000411418.1:p.Val80Ala
ENST00000487003.5:n.308T>C
ENST00000539493.2:c.107T>C	ENSP00000444306.1:p.Val36Ala
NM_001172435.1:c.239T>C	NP_001165906.1:p.Val80Ala
NM_012233.2:c.239T>C	NP_036365.1:p.Val80Ala
XM_011510822.1:c.239T>C	XP_011509124.1:p.Val80Ala
XM_011510823.1:c.239T>C	XP_011509125.1:p.Val80Ala
XM_011510824.1:c.239T>C	XP_011509126.1:p.Val80Ala
XM_011510825.1:c.239T>C	XP_011509127.1:p.Val80Ala
XM_011510823.3:c.239T>C	XP_011509125.1:p.Val80Ala
XM_011510825.3:c.239T>C	XP_011509127.1:p.Val80Ala
XR_001738674.2:n.266T>C
NM_001172435.2:c.239T>C	NP_001165906.1:p.Val80Ala
NM_012233.3:c.239T>C MANE Select	NP_036365.1:p.Val80Ala