Canonical Allele Identifier: CA77869383
Gene: ROBO1 HGNC NCBI

Linked Data

dbSNP Id: rs7617400
gnomAD v2: 3-79604064-C-T
gnomAD v3: 3-79554914-C-T
gnomAD v4: 3-79554914-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.79554914C>T , CM000665.2:g.79554914C>T GRCh38
NC_000003.11:g.79604064C>T , CM000665.1:g.79604064C>T GRCh37
NC_000003.10:g.79686754C>T NCBI36
NG_011729.1:g.217996G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000464233.6:c.88+34910G>A MANE Select ENSP00000420321.1:n.88+34910G>A
ENST00000464233.5:c.88+34910G>A ENSP00000420321.1:n.88+34910G>A
ENST00000492990.1:c.89-21805G>A ENSP00000419915.1:n.89-21805G>A
NM_002941.3:c.88+34910G>A NP_002932.1:n.88+34910G>A
XM_011533976.1:c.88+34910G>A XP_011532278.1:n.88+34910G>A
XM_011533977.1:c.88+34910G>A XP_011532279.1:n.88+34910G>A
XM_011533978.1:c.88+34910G>A XP_011532280.1:n.88+34910G>A
XM_011533979.1:c.88+34910G>A XP_011532281.1:n.88+34910G>A
XM_011533980.1:c.88+34910G>A XP_011532282.1:n.88+34910G>A
XM_011533977.2:c.88+34910G>A XP_011532279.1:n.88+34910G>A
XM_017006982.1:c.88+34910G>A XP_016862471.1:n.88+34910G>A
XM_017006984.1:c.88+34910G>A XP_016862473.1:n.88+34910G>A
NM_002941.4:c.88+34910G>A MANE Select NP_002932.1:n.88+34910G>A