Canonical Allele Identifier: CA348581068

Gene: RAB3GAP1 ZRANB3

Linked Data

• MyVariant Identifiers: chr2:g.135907942C>A (hg19) ; chr2:g.135150372C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.135150372C>A , CM000664.2:g.135150372C>A	GRCh38
NC_000002.11:g.135907942C>A , CM000664.1:g.135907942C>A	GRCh37
NC_000002.10:g.135624412C>A	NCBI36
NG_016972.1:g.103108C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000539493.3:c.1927C>A (RAB3GAP1)	ENSP00000444306.2:p.Pro643Thr
ENST00000685967.1:c.*1384C>A (RAB3GAP1)	ENSP00000508423.1:n.*1384C>A
ENST00000686114.1:n.2273C>A (RAB3GAP1)
ENST00000687199.1:c.*1995C>A (RAB3GAP1)	ENSP00000510319.1:n.*1995C>A
ENST00000687630.1:n.1559C>A (RAB3GAP1)
ENST00000688088.1:n.1946C>A (RAB3GAP1)
ENST00000688182.1:c.151-17321C>A (RAB3GAP1)	ENSP00000509324.1:n.151-17321C>A
ENST00000689880.1:n.1946C>A (RAB3GAP1)
ENST00000690208.1:c.*1605C>A (RAB3GAP1)	ENSP00000510746.1:n.*1605C>A
ENST00000690785.1:n.1946C>A (RAB3GAP1)
ENST00000691339.1:c.*1550C>A (RAB3GAP1)	ENSP00000509953.1:n.*1550C>A
ENST00000691478.1:c.*2026C>A (RAB3GAP1)	ENSP00000509081.1:n.*2026C>A
ENST00000693554.1:c.1927C>A (RAB3GAP1)	ENSP00000509030.1:p.Pro643Thr
ENST00000264158.13:c.1927C>A (RAB3GAP1) MANE Select	ENSP00000264158.8:p.Pro643Thr
ENST00000264158.12:c.1927C>A (RAB3GAP1)	ENSP00000264158.7:p.Pro643Thr
ENST00000412849.5:n.2140+2489G>T (ZRANB3)
ENST00000442034.5:c.1927C>A (RAB3GAP1)	ENSP00000411418.1:p.Pro643Thr
ENST00000487003.5:n.1996C>A (RAB3GAP1)
ENST00000539493.2:c.1795C>A (RAB3GAP1)	ENSP00000444306.1:p.Pro599Thr
ENST00000619650.4:c.*179+2489G>T (ZRANB3)	ENSP00000480120.1:n.*179+2489G>T
NM_001172435.1:c.1927C>A (RAB3GAP1)	NP_001165906.1:p.Pro643Thr
NM_012233.2:c.1927C>A (RAB3GAP1)	NP_036365.1:p.Pro643Thr
XM_011510822.1:c.1927C>A (RAB3GAP1)	XP_011509124.1:p.Pro643Thr
XM_011510823.1:c.1927C>A (RAB3GAP1)	XP_011509125.1:p.Pro643Thr
XM_011510824.1:c.1927C>A (RAB3GAP1)	XP_011509126.1:p.Pro643Thr
XM_011510825.1:c.1927C>A (RAB3GAP1)	XP_011509127.1:p.Pro643Thr
XM_011510823.3:c.1927C>A (RAB3GAP1)	XP_011509125.1:p.Pro643Thr
XM_011510825.3:c.1927C>A (RAB3GAP1)	XP_011509127.1:p.Pro643Thr
XR_001738674.2:n.1954C>A (RAB3GAP1)
NM_001172435.2:c.1927C>A (RAB3GAP1)	NP_001165906.1:p.Pro643Thr
NM_012233.3:c.1927C>A (RAB3GAP1) MANE Select	NP_036365.1:p.Pro643Thr