Canonical Allele Identifier: CA206492834
Community Standard Title: NM_021226.4(ARHGAP22):c.1435C>T (p.Arg479Trp)
Gene: ARHGAP22 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.48450694G>A , CM000672.2:g.48450694G>A GRCh38
NC_000010.10:g.49658737G>A , CM000672.1:g.49658737G>A GRCh37
NC_000010.9:g.49328743G>A NCBI36
NG_053158.1:g.210572C>T

Transcript Alleles

HGVS Amino-acid Change
NM_021226.4:c.1435C>T MANE Select NP_067049.2:p.Arg479Trp
ENST00000249601.9:c.1435C>T MANE Select ENSP00000249601.4:p.Arg479Trp
NM_001256024.1:c.1483C>T NP_001242953.1:p.Arg495Trp
NM_001256024.2:c.1483C>T NP_001242953.1:p.Arg495Trp
NM_001256025.2:c.1453C>T NP_001242954.1:p.Arg485Trp
NM_001256025.3:c.1453C>T NP_001242954.1:p.Arg485Trp
NM_001256026.1:c.1165C>T NP_001242955.1:p.Arg389Trp
NM_001256026.2:c.1165C>T NP_001242955.1:p.Arg389Trp
NM_001347735.1:c.1306C>T NP_001334664.1:p.Arg436Trp
NM_001347735.2:c.1306C>T NP_001334664.1:p.Arg436Trp
NM_001347738.1:c.1453C>T NP_001334667.1:p.Arg485Trp
NM_001347738.2:c.1453C>T NP_001334667.1:p.Arg485Trp
NM_021226.3:c.1435C>T NP_067049.2:p.Arg479Trp
NR_045675.1:n.2269C>T
NR_045675.2:n.2269C>T
NR_144642.1:n.2185C>T
NR_144642.2:n.2127C>T
NR_144643.1:n.2237C>T
NR_144643.2:n.2179C>T
NR_144644.1:n.2108C>T
NR_144644.2:n.2050C>T
NR_144645.1:n.1718C>T
NR_144645.2:n.1660C>T
NR_144646.1:n.1562C>T
NR_144646.2:n.1504C>T
ENST00000249601.8:c.1435C>T ENSP00000249601.4:p.Arg479Trp
ENST00000374170.5:c.958C>T ENSP00000363285.1:p.Arg320Trp
ENST00000374172.5:c.1108C>T ENSP00000363287.1:p.Arg370Trp
ENST00000417247.6:c.1165C>T ENSP00000410054.2:p.Arg389Trp
ENST00000417912.6:c.1483C>T ENSP00000412461.2:p.Arg495Trp
ENST00000435790.6:c.1453C>T ENSP00000416701.2:p.Arg485Trp
ENST00000460425.1:c.*615C>T ENSP00000422663.1:n.*615C>T
ENST00000477708.6:c.934C>T ENSP00000422868.1:p.Arg312Trp
XM_005270014.2:c.1213C>T XP_005270071.1:p.Arg405Trp
XM_005270014.3:c.1213C>T XP_005270071.1:p.Arg405Trp
XM_011540002.1:c.1501C>T XP_011538304.1:p.Arg501Trp
XM_011540002.2:c.1501C>T XP_011538304.1:p.Arg501Trp
XM_011540003.1:c.1501C>T XP_011538305.1:p.Arg501Trp
XM_011540004.1:c.1453C>T XP_011538306.1:p.Arg485Trp
XM_011540005.1:c.1213C>T XP_011538307.1:p.Arg405Trp
XM_011540006.1:c.1324C>T XP_011538308.1:p.Arg442Trp
XM_011540006.2:c.1324C>T XP_011538308.1:p.Arg442Trp
XM_011540007.1:c.1252C>T XP_011538309.1:p.Arg418Trp
XM_011540008.1:c.1195C>T XP_011538310.1:p.Arg399Trp
XM_011540009.1:c.1099C>T XP_011538311.1:p.Arg367Trp
XM_011540010.1:c.1099C>T XP_011538312.1:p.Arg367Trp
XM_011540011.1:c.1036C>T XP_011538313.1:p.Arg346Trp
XM_011540011.2:c.1036C>T XP_011538313.1:p.Arg346Trp
XM_011540012.1:c.997C>T XP_011538314.1:p.Arg333Trp
XM_011540012.3:c.997C>T XP_011538314.1:p.Arg333Trp
XM_011540013.1:c.1054+2610C>T XP_011538315.1:n.1054+2610C>T
XM_011540013.3:c.1054+2610C>T XP_011538315.1:n.1054+2610C>T
XM_011540015.1:c.1054+2610C>T XP_011538317.1:n.1054+2610C>T
XM_011540015.3:c.1054+2610C>T XP_011538317.1:n.1054+2610C>T
XM_017016471.2:c.997C>T XP_016871960.1:p.Arg333Trp
XM_017016476.1:c.988+2610C>T XP_016871965.1:n.988+2610C>T
XM_024448099.1:c.1501C>T XP_024303867.1:p.Arg501Trp
XM_024448100.1:c.1006+2610C>T XP_024303868.1:n.1006+2610C>T
XM_024448101.1:c.529C>T XP_024303869.1:p.Arg177Trp
XR_001747166.2:n.2165C>T
XR_002956998.1:n.1939C>T
XR_002956999.1:n.1646C>T
XR_002957000.1:n.1199+2610C>T
XR_002957001.1:n.1199+2610C>T
XR_002957004.1:n.1313C>T