Canonical Allele Identifier: CA77655730

Gene: ROBO1

Linked Data

• dbSNP Id: rs75945484
• gnomAD v2: 3-78646704-A-C
• gnomAD v3: 3-78597554-A-C
• gnomAD v4: 3-78597554-A-C
• MyVariant Identifiers: chr3:g.78646704A>C (hg19) ; chr3:g.78597554A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.78597554A>C , CM000665.2:g.78597554A>C	GRCh38
NC_000003.11:g.78646704A>C , CM000665.1:g.78646704A>C	GRCh37
NC_000003.10:g.78729394A>C	NCBI36
NG_011729.1:g.1175356T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000464233.6:c.*1359T>G MANE Select	ENSP00000420321.1:n.*1359T>G
ENST00000436010.6:c.*1359T>G	ENSP00000406043.3:n.*1359T>G
ENST00000464233.5:c.*1359T>G	ENSP00000420321.1:n.*1359T>G
ENST00000618833.4:c.*1359T>G	ENSP00000477976.1:n.*1359T>G
ENST00000618846.4:c.*1359T>G	ENSP00000482448.1:n.*1359T>G
NM_001145845.1:c.*1359T>G	NP_001139317.1:n.*1359T>G
NM_002941.3:c.*1359T>G	NP_002932.1:n.*1359T>G
NM_133631.3:c.*1359T>G	NP_598334.2:n.*1359T>G
XM_006713276.2:c.*1359T>G	XP_006713339.1:n.*1359T>G
XM_006713277.2:c.*1359T>G	XP_006713340.1:n.*1359T>G
XM_011533976.1:c.*1359T>G	XP_011532278.1:n.*1359T>G
XM_011533977.1:c.*1359T>G	XP_011532279.1:n.*1359T>G
XM_011533978.1:c.*1359T>G	XP_011532280.1:n.*1359T>G
XM_011533979.1:c.*1359T>G	XP_011532281.1:n.*1359T>G
XM_011533980.1:c.*1359T>G	XP_011532282.1:n.*1359T>G
XM_006713277.3:c.*1359T>G	XP_006713340.1:n.*1359T>G
XM_011533977.2:c.*1359T>G	XP_011532279.1:n.*1359T>G
XM_017006982.1:c.*1359T>G	XP_016862471.1:n.*1359T>G
XM_017006983.2:c.*1359T>G	XP_016862472.1:n.*1359T>G
XM_017006984.1:c.*1359T>G	XP_016862473.1:n.*1359T>G
XM_017006985.1:c.*1359T>G	XP_016862474.1:n.*1359T>G
NM_002941.4:c.*1359T>G MANE Select	NP_002932.1:n.*1359T>G
NM_001145845.2:c.*1359T>G	NP_001139317.1:n.*1359T>G
NM_133631.4:c.*1359T>G	NP_598334.2:n.*1359T>G