Canonical Allele Identifier: CA77706949
Community Standard Title: NM_002941.4(ROBO1):c.355C>T (p.Arg119Ter)
Gene: ROBO1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.78938745G>A , CM000665.2:g.78938745G>A GRCh38
NC_000003.11:g.78987895G>A , CM000665.1:g.78987895G>A GRCh37
NC_000003.10:g.79070585G>A NCBI36
NG_011729.1:g.834165C>T

Transcript Alleles

HGVS Amino-acid Change
NM_002941.4:c.355C>T MANE Select NP_002932.1:p.Arg119Ter
ENST00000464233.6:c.355C>T MANE Select ENSP00000420321.1:p.Arg119Ter
NM_001145845.1:c.238C>T NP_001139317.1:p.Arg80Ter
NM_001145845.2:c.238C>T NP_001139317.1:p.Arg80Ter
NM_002941.3:c.355C>T NP_002932.1:p.Arg119Ter
NM_133631.3:c.238C>T NP_598334.2:p.Arg80Ter
NM_133631.4:c.238C>T NP_598334.2:p.Arg80Ter
ENST00000436010.6:c.-3C>T ENSP00000406043.3:n.-3C>T
ENST00000464233.5:c.355C>T ENSP00000420321.1:p.Arg119Ter
ENST00000467549.5:c.238C>T ENSP00000417992.1:p.Arg80Ter
ENST00000495273.5:c.238C>T ENSP00000420637.1:p.Arg80Ter
ENST00000618833.4:c.238C>T ENSP00000477976.1:p.Arg80Ter
ENST00000618846.4:c.-3C>T ENSP00000482448.1:n.-3C>T
XM_006713276.2:c.241C>T XP_006713339.1:p.Arg81Ter
XM_006713277.2:c.238C>T XP_006713340.1:p.Arg80Ter
XM_006713277.3:c.238C>T XP_006713340.1:p.Arg80Ter
XM_011533976.1:c.355C>T XP_011532278.1:p.Arg119Ter
XM_011533977.1:c.355C>T XP_011532279.1:p.Arg119Ter
XM_011533977.2:c.355C>T XP_011532279.1:p.Arg119Ter
XM_011533978.1:c.355C>T XP_011532280.1:p.Arg119Ter
XM_011533979.1:c.355C>T XP_011532281.1:p.Arg119Ter
XM_011533980.1:c.355C>T XP_011532282.1:p.Arg119Ter
XM_017006982.1:c.271C>T XP_016862471.1:p.Arg91Ter
XM_017006983.2:c.238C>T XP_016862472.1:p.Arg80Ter
XM_017006984.1:c.355C>T XP_016862473.1:p.Arg119Ter
XM_017006985.1:c.-3C>T XP_016862474.1:n.-3C>T