Canonical Allele Identifier: CA353671579

Gene: ROBO1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.78670224G>A , CM000665.2:g.78670224G>A	GRCh38
NC_000003.11:g.78719374G>A , CM000665.1:g.78719374G>A	GRCh37
NC_000003.10:g.78802064G>A	NCBI36
NG_011729.1:g.1102686C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_002941.4:c.1420C>T MANE Select	NP_002932.1:p.Leu474Phe
ENST00000464233.6:c.1420C>T MANE Select	ENSP00000420321.1:p.Leu474Phe
NM_001145845.1:c.1312C>T	NP_001139317.1:p.Leu438Phe
NM_001145845.2:c.1312C>T	NP_001139317.1:p.Leu438Phe
NM_002941.3:c.1420C>T	NP_002932.1:p.Leu474Phe
NM_133631.3:c.1312C>T	NP_598334.2:p.Leu438Phe
NM_133631.4:c.1312C>T	NP_598334.2:p.Leu438Phe
ENST00000436010.6:c.1063C>T	ENSP00000406043.3:p.Leu355Phe
ENST00000464233.5:c.1420C>T	ENSP00000420321.1:p.Leu474Phe
ENST00000467549.5:c.1312C>T	ENSP00000417992.1:p.Leu438Phe
ENST00000484514.1:n.1245C>T
ENST00000495273.5:c.1312C>T	ENSP00000420637.1:p.Leu438Phe
ENST00000495961.1:c.19C>T	ENSP00000418553.1:p.Leu7Phe
ENST00000498428.5:n.317C>T
ENST00000618833.4:c.1312C>T	ENSP00000477976.1:p.Leu438Phe
ENST00000618846.4:c.1072C>T	ENSP00000482448.1:p.Leu358Phe
XM_006713276.2:c.1315C>T	XP_006713339.1:p.Leu439Phe
XM_006713277.2:c.1312C>T	XP_006713340.1:p.Leu438Phe
XM_006713277.3:c.1312C>T	XP_006713340.1:p.Leu438Phe
XM_011533976.1:c.1429C>T	XP_011532278.1:p.Leu477Phe
XM_011533977.1:c.1429C>T	XP_011532279.1:p.Leu477Phe
XM_011533977.2:c.1429C>T	XP_011532279.1:p.Leu477Phe
XM_011533978.1:c.1429C>T	XP_011532280.1:p.Leu477Phe
XM_011533979.1:c.1429C>T	XP_011532281.1:p.Leu477Phe
XM_011533980.1:c.1429C>T	XP_011532282.1:p.Leu477Phe
XM_017006982.1:c.1345C>T	XP_016862471.1:p.Leu449Phe
XM_017006983.2:c.1303C>T	XP_016862472.1:p.Leu435Phe
XM_017006984.1:c.1420C>T	XP_016862473.1:p.Leu474Phe
XM_017006985.1:c.1072C>T	XP_016862474.1:p.Leu358Phe