Canonical Allele Identifier: CA353651100

Gene: ROBO1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.78633966G>T , CM000665.2:g.78633966G>T	GRCh38
NC_000003.11:g.78683116G>T , CM000665.1:g.78683116G>T	GRCh37
NC_000003.10:g.78765806G>T	NCBI36
NG_011729.1:g.1138944C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_002941.4:c.3450C>A MANE Select	NP_002932.1:p.Tyr1150Ter
ENST00000464233.6:c.3450C>A MANE Select	ENSP00000420321.1:p.Tyr1150Ter
NM_001145845.1:c.3150C>A	NP_001139317.1:p.Tyr1050Ter
NM_001145845.2:c.3150C>A	NP_001139317.1:p.Tyr1050Ter
NM_002941.3:c.3450C>A	NP_002932.1:p.Tyr1150Ter
NM_133631.3:c.3315C>A	NP_598334.2:p.Tyr1105Ter
NM_133631.4:c.3315C>A	NP_598334.2:p.Tyr1105Ter
ENST00000436010.6:c.3090C>A	ENSP00000406043.3:p.Tyr1030Ter
ENST00000464233.5:c.3450C>A	ENSP00000420321.1:p.Tyr1150Ter
ENST00000467549.5:c.3150C>A	ENSP00000417992.1:p.Tyr1050Ter
ENST00000472273.1:c.230C>A
ENST00000495273.5:c.3315C>A	ENSP00000420637.1:p.Tyr1105Ter
ENST00000498428.5:n.2347C>A
ENST00000618833.4:c.3315C>A	ENSP00000477976.1:p.Tyr1105Ter
ENST00000618846.4:c.3072C>A	ENSP00000482448.1:p.Tyr1024Ter
XM_006713276.2:c.3345C>A	XP_006713339.1:p.Tyr1115Ter
XM_006713277.2:c.3342C>A	XP_006713340.1:p.Tyr1114Ter
XM_006713277.3:c.3342C>A	XP_006713340.1:p.Tyr1114Ter
XM_011533976.1:c.3459C>A	XP_011532278.1:p.Tyr1153Ter
XM_011533977.1:c.3459C>A	XP_011532279.1:p.Tyr1153Ter
XM_011533977.2:c.3459C>A	XP_011532279.1:p.Tyr1153Ter
XM_011533978.1:c.3432C>A	XP_011532280.1:p.Tyr1144Ter
XM_011533979.1:c.3294C>A	XP_011532281.1:p.Tyr1098Ter
XM_011533980.1:c.3267C>A	XP_011532282.1:p.Tyr1089Ter
XM_017006982.1:c.3375C>A	XP_016862471.1:p.Tyr1125Ter
XM_017006983.2:c.3333C>A	XP_016862472.1:p.Tyr1111Ter
XM_017006984.1:c.3285C>A	XP_016862473.1:p.Tyr1095Ter
XM_017006985.1:c.3102C>A	XP_016862474.1:p.Tyr1034Ter