Canonical Allele Identifier: CA348581088

Gene: RAB3GAP1 ZRANB3

Linked Data

• gnomAD v4: 2-135150376-C-A
• MyVariant Identifiers: chr2:g.135907946C>A (hg19) ; chr2:g.135150376C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.135150376C>A , CM000664.2:g.135150376C>A	GRCh38
NC_000002.11:g.135907946C>A , CM000664.1:g.135907946C>A	GRCh37
NC_000002.10:g.135624416C>A	NCBI36
NG_016972.1:g.103112C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000539493.3:c.1931C>A (RAB3GAP1)	ENSP00000444306.2:p.Ala644Glu
ENST00000685967.1:c.*1388C>A (RAB3GAP1)	ENSP00000508423.1:n.*1388C>A
ENST00000686114.1:n.2277C>A (RAB3GAP1)
ENST00000687199.1:c.*1999C>A (RAB3GAP1)	ENSP00000510319.1:n.*1999C>A
ENST00000687630.1:n.1563C>A (RAB3GAP1)
ENST00000688088.1:n.1950C>A (RAB3GAP1)
ENST00000688182.1:c.151-17317C>A (RAB3GAP1)	ENSP00000509324.1:n.151-17317C>A
ENST00000689880.1:n.1950C>A (RAB3GAP1)
ENST00000690208.1:c.*1609C>A (RAB3GAP1)	ENSP00000510746.1:n.*1609C>A
ENST00000690785.1:n.1950C>A (RAB3GAP1)
ENST00000691339.1:c.*1554C>A (RAB3GAP1)	ENSP00000509953.1:n.*1554C>A
ENST00000691478.1:c.*2030C>A (RAB3GAP1)	ENSP00000509081.1:n.*2030C>A
ENST00000693554.1:c.1931C>A (RAB3GAP1)	ENSP00000509030.1:p.Ala644Glu
ENST00000264158.13:c.1931C>A (RAB3GAP1) MANE Select	ENSP00000264158.8:p.Ala644Glu
ENST00000264158.12:c.1931C>A (RAB3GAP1)	ENSP00000264158.7:p.Ala644Glu
ENST00000412849.5:n.2140+2485G>T (ZRANB3)
ENST00000442034.5:c.1931C>A (RAB3GAP1)	ENSP00000411418.1:p.Ala644Glu
ENST00000487003.5:n.2000C>A (RAB3GAP1)
ENST00000539493.2:c.1799C>A (RAB3GAP1)	ENSP00000444306.1:p.Ala600Glu
ENST00000619650.4:c.*179+2485G>T (ZRANB3)	ENSP00000480120.1:n.*179+2485G>T
NM_001172435.1:c.1931C>A (RAB3GAP1)	NP_001165906.1:p.Ala644Glu
NM_012233.2:c.1931C>A (RAB3GAP1)	NP_036365.1:p.Ala644Glu
XM_011510822.1:c.1931C>A (RAB3GAP1)	XP_011509124.1:p.Ala644Glu
XM_011510823.1:c.1931C>A (RAB3GAP1)	XP_011509125.1:p.Ala644Glu
XM_011510824.1:c.1931C>A (RAB3GAP1)	XP_011509126.1:p.Ala644Glu
XM_011510825.1:c.1931C>A (RAB3GAP1)	XP_011509127.1:p.Ala644Glu
XM_011510823.3:c.1931C>A (RAB3GAP1)	XP_011509125.1:p.Ala644Glu
XM_011510825.3:c.1931C>A (RAB3GAP1)	XP_011509127.1:p.Ala644Glu
XR_001738674.2:n.1958C>A (RAB3GAP1)
NM_001172435.2:c.1931C>A (RAB3GAP1)	NP_001165906.1:p.Ala644Glu
NM_012233.3:c.1931C>A (RAB3GAP1) MANE Select	NP_036365.1:p.Ala644Glu