Canonical Allele Identifier: CA353683123

Gene: ROBO1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.78600303A>G , CM000665.2:g.78600303A>G	GRCh38
NC_000003.11:g.78649453A>G , CM000665.1:g.78649453A>G	GRCh37
NC_000003.10:g.78732143A>G	NCBI36
NG_011729.1:g.1172607T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000464233.6:c.4751T>C MANE Select	ENSP00000420321.1:p.Ile1584Thr
ENST00000436010.6:c.4391T>C	ENSP00000406043.3:p.Ile1464Thr
ENST00000464233.5:c.4751T>C	ENSP00000420321.1:p.Ile1584Thr
ENST00000466906.1:n.360T>C
ENST00000467549.5:c.4451T>C	ENSP00000417992.1:p.Ile1484Thr
ENST00000495273.5:c.4616T>C	ENSP00000420637.1:p.Ile1539Thr
ENST00000618833.4:c.4616T>C	ENSP00000477976.1:p.Ile1539Thr
ENST00000618846.4:c.4373T>C	ENSP00000482448.1:p.Ile1458Thr
NM_001145845.1:c.4451T>C	NP_001139317.1:p.Ile1484Thr
NM_002941.3:c.4751T>C	NP_002932.1:p.Ile1584Thr
NM_133631.3:c.4616T>C	NP_598334.2:p.Ile1539Thr
XM_006713276.2:c.4646T>C	XP_006713339.1:p.Ile1549Thr
XM_006713277.2:c.4643T>C	XP_006713340.1:p.Ile1548Thr
XM_011533976.1:c.4760T>C	XP_011532278.1:p.Ile1587Thr
XM_011533977.1:c.4760T>C	XP_011532279.1:p.Ile1587Thr
XM_011533978.1:c.4733T>C	XP_011532280.1:p.Ile1578Thr
XM_011533979.1:c.4595T>C	XP_011532281.1:p.Ile1532Thr
XM_011533980.1:c.4568T>C	XP_011532282.1:p.Ile1523Thr
XM_006713277.3:c.4643T>C	XP_006713340.1:p.Ile1548Thr
XM_011533977.2:c.4760T>C	XP_011532279.1:p.Ile1587Thr
XM_017006982.1:c.4676T>C	XP_016862471.1:p.Ile1559Thr
XM_017006983.2:c.4634T>C	XP_016862472.1:p.Ile1545Thr
XM_017006984.1:c.4586T>C	XP_016862473.1:p.Ile1529Thr
XM_017006985.1:c.4403T>C	XP_016862474.1:p.Ile1468Thr
NM_002941.4:c.4751T>C MANE Select	NP_002932.1:p.Ile1584Thr
NM_001145845.2:c.4451T>C	NP_001139317.1:p.Ile1484Thr
NM_133631.4:c.4616T>C	NP_598334.2:p.Ile1539Thr