Canonical Allele Identifier: CA11504718
Gene: ROBO1 HGNC NCBI

Linked Data

dbSNP Id: rs1455824
gnomAD v2: 3-79137230-G-A
gnomAD v3: 3-79088080-G-A
gnomAD v4: 3-79088080-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.79088080G>A , CM000665.2:g.79088080G>A GRCh38
NC_000003.11:g.79137230G>A , CM000665.1:g.79137230G>A GRCh37
NC_000003.10:g.79219920G>A NCBI36
NG_011729.1:g.684830C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000464233.6:c.172+37376C>T MANE Select ENSP00000420321.1:n.172+37376C>T
ENST00000464233.5:c.172+37376C>T ENSP00000420321.1:n.172+37376C>T
NM_002941.3:c.172+37376C>T NP_002932.1:n.172+37376C>T
XM_011533976.1:c.172+37376C>T XP_011532278.1:n.172+37376C>T
XM_011533977.1:c.172+37376C>T XP_011532279.1:n.172+37376C>T
XM_011533978.1:c.172+37376C>T XP_011532280.1:n.172+37376C>T
XM_011533979.1:c.172+37376C>T XP_011532281.1:n.172+37376C>T
XM_011533980.1:c.172+37376C>T XP_011532282.1:n.172+37376C>T
XM_011533977.2:c.172+37376C>T XP_011532279.1:n.172+37376C>T
XM_017006982.1:c.89-149153C>T XP_016862471.1:n.89-149153C>T
XM_017006984.1:c.172+37376C>T XP_016862473.1:n.172+37376C>T
NM_002941.4:c.172+37376C>T MANE Select NP_002932.1:n.172+37376C>T