Canonical Allele Identifier: CA77869361
Gene: ROBO1 HGNC NCBI

Linked Data

dbSNP Id: rs879488136
gnomAD v2: 3-79603837-T-G
gnomAD v3: 3-79554687-T-G
gnomAD v4: 3-79554687-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.79554687T>G , CM000665.2:g.79554687T>G GRCh38
NC_000003.11:g.79603837T>G , CM000665.1:g.79603837T>G GRCh37
NC_000003.10:g.79686527T>G NCBI36
NG_011729.1:g.218223A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000464233.6:c.88+35137A>C MANE Select ENSP00000420321.1:n.88+35137A>C
ENST00000464233.5:c.88+35137A>C ENSP00000420321.1:n.88+35137A>C
ENST00000492990.1:c.89-21578A>C ENSP00000419915.1:n.89-21578A>C
NM_002941.3:c.88+35137A>C NP_002932.1:n.88+35137A>C
XM_011533976.1:c.88+35137A>C XP_011532278.1:n.88+35137A>C
XM_011533977.1:c.88+35137A>C XP_011532279.1:n.88+35137A>C
XM_011533978.1:c.88+35137A>C XP_011532280.1:n.88+35137A>C
XM_011533979.1:c.88+35137A>C XP_011532281.1:n.88+35137A>C
XM_011533980.1:c.88+35137A>C XP_011532282.1:n.88+35137A>C
XM_011533977.2:c.88+35137A>C XP_011532279.1:n.88+35137A>C
XM_017006982.1:c.88+35137A>C XP_016862471.1:n.88+35137A>C
XM_017006984.1:c.88+35137A>C XP_016862473.1:n.88+35137A>C
NM_002941.4:c.88+35137A>C MANE Select NP_002932.1:n.88+35137A>C