Canonical Allele Identifier: CA353665177

Gene: ROBO1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.78717822C>G , CM000665.2:g.78717822C>G	GRCh38
NC_000003.11:g.78766972C>G , CM000665.1:g.78766972C>G	GRCh37
NC_000003.10:g.78849662C>G	NCBI36
NG_011729.1:g.1055088G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_002941.4:c.719G>C MANE Select	NP_002932.1:p.Cys240Ser
ENST00000464233.6:c.719G>C MANE Select	ENSP00000420321.1:p.Cys240Ser
NM_001145845.1:c.602G>C	NP_001139317.1:p.Cys201Ser
NM_001145845.2:c.602G>C	NP_001139317.1:p.Cys201Ser
NM_002941.3:c.719G>C	NP_002932.1:p.Cys240Ser
NM_133631.3:c.602G>C	NP_598334.2:p.Cys201Ser
NM_133631.4:c.602G>C	NP_598334.2:p.Cys201Ser
ENST00000436010.6:c.362G>C	ENSP00000406043.3:p.Cys121Ser
ENST00000464233.5:c.719G>C	ENSP00000420321.1:p.Cys240Ser
ENST00000467549.5:c.602G>C	ENSP00000417992.1:p.Cys201Ser
ENST00000495273.5:c.602G>C	ENSP00000420637.1:p.Cys201Ser
ENST00000618833.4:c.602G>C	ENSP00000477976.1:p.Cys201Ser
ENST00000618846.4:c.362G>C	ENSP00000482448.1:p.Cys121Ser
XM_006713276.2:c.605G>C	XP_006713339.1:p.Cys202Ser
XM_006713277.2:c.602G>C	XP_006713340.1:p.Cys201Ser
XM_006713277.3:c.602G>C	XP_006713340.1:p.Cys201Ser
XM_011533976.1:c.719G>C	XP_011532278.1:p.Cys240Ser
XM_011533977.1:c.719G>C	XP_011532279.1:p.Cys240Ser
XM_011533977.2:c.719G>C	XP_011532279.1:p.Cys240Ser
XM_011533978.1:c.719G>C	XP_011532280.1:p.Cys240Ser
XM_011533979.1:c.719G>C	XP_011532281.1:p.Cys240Ser
XM_011533980.1:c.719G>C	XP_011532282.1:p.Cys240Ser
XM_017006982.1:c.635G>C	XP_016862471.1:p.Cys212Ser
XM_017006983.2:c.602G>C	XP_016862472.1:p.Cys201Ser
XM_017006984.1:c.719G>C	XP_016862473.1:p.Cys240Ser
XM_017006985.1:c.362G>C	XP_016862474.1:p.Cys121Ser