Canonical Allele Identifier: CA348586017
Community Standard Title: NM_012233.3(RAB3GAP1):c.2491G>T (p.Glu831Ter)
Gene: RAB3GAP1 HGNC NCBI
ZRANB3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.135162986G>T , CM000664.2:g.135162986G>T GRCh38
NC_000002.11:g.135920556G>T , CM000664.1:g.135920556G>T GRCh37
NC_000002.10:g.135637026G>T NCBI36
NG_016972.1:g.115722G>T

Transcript Alleles

HGVS Amino-acid Change
NM_012233.3:c.2491G>T (RAB3GAP1) MANE Select NP_036365.1:p.Glu831Ter
ENST00000264158.13:c.2491G>T (RAB3GAP1) MANE Select ENSP00000264158.8:p.Glu831Ter
NM_001172435.1:c.2491G>T (RAB3GAP1) NP_001165906.1:p.Glu831Ter
NM_001172435.2:c.2491G>T (RAB3GAP1) NP_001165906.1:p.Glu831Ter
NM_012233.2:c.2491G>T (RAB3GAP1) NP_036365.1:p.Glu831Ter
ENST00000264158.12:c.2491G>T (RAB3GAP1) ENSP00000264158.7:p.Glu831Ter
ENST00000412849.5:n.1794-359C>A (ZRANB3)
ENST00000442034.5:c.2491G>T (RAB3GAP1) ENSP00000411418.1:p.Glu831Ter
ENST00000487003.5:n.2560G>T (RAB3GAP1)
ENST00000539493.2:c.2359G>T (RAB3GAP1) ENSP00000444306.1:p.Glu787Ter
ENST00000539493.3:c.2491G>T (RAB3GAP1) ENSP00000444306.2:p.Glu831Ter
ENST00000619650.4:c.1630-359C>A (ZRANB3) ENSP00000480120.1:n.1630-359C>A
ENST00000684914.1:n.817G>T (RAB3GAP1)
ENST00000685652.1:n.3130G>T (RAB3GAP1)
ENST00000685967.1:c.*1948G>T (RAB3GAP1) ENSP00000508423.1:n.*1948G>T
ENST00000687199.1:c.*2559G>T (RAB3GAP1) ENSP00000510319.1:n.*2559G>T
ENST00000688088.1:n.5652G>T (RAB3GAP1)
ENST00000688182.1:c.151-4707G>T (RAB3GAP1) ENSP00000509324.1:n.151-4707G>T
ENST00000689187.1:n.2057G>T (RAB3GAP1)
ENST00000690208.1:c.*2169G>T (RAB3GAP1) ENSP00000510746.1:n.*2169G>T
ENST00000690785.1:n.2510G>T (RAB3GAP1)
ENST00000691339.1:c.*2114G>T (RAB3GAP1) ENSP00000509953.1:n.*2114G>T
ENST00000691478.1:c.*2590G>T (RAB3GAP1) ENSP00000509081.1:n.*2590G>T
ENST00000692993.1:n.49G>T (RAB3GAP1)
ENST00000693554.1:c.*293G>T (RAB3GAP1) ENSP00000509030.1:n.*293G>T
XM_011510822.1:c.2491G>T (RAB3GAP1) XP_011509124.1:p.Glu831Ter
XM_011510823.1:c.2491G>T (RAB3GAP1) XP_011509125.1:p.Glu831Ter
XM_011510823.3:c.2491G>T (RAB3GAP1) XP_011509125.1:p.Glu831Ter
XM_011510824.1:c.2491G>T (RAB3GAP1) XP_011509126.1:p.Glu831Ter
XM_011510825.1:c.2491G>T (RAB3GAP1) XP_011509127.1:p.Glu831Ter
XM_011510825.3:c.2491G>T (RAB3GAP1) XP_011509127.1:p.Glu831Ter
XR_001738674.2:n.2518G>T (RAB3GAP1)