Canonical Allele Identifier: CA544197450

Gene: ROBO1

Linked Data

• dbSNP Id: rs1383846716
• gnomAD v2: 3-79604119-T-G
• gnomAD v3: 3-79554969-T-G
• gnomAD v4: 3-79554969-T-G
• MyVariant Identifiers: chr3:g.79604119T>G (hg19) ; chr3:g.79554969T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.79554969T>G , CM000665.2:g.79554969T>G	GRCh38
NC_000003.11:g.79604119T>G , CM000665.1:g.79604119T>G	GRCh37
NC_000003.10:g.79686809T>G	NCBI36
NG_011729.1:g.217941A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000464233.6:c.88+34855A>C MANE Select	ENSP00000420321.1:n.88+34855A>C
ENST00000464233.5:c.88+34855A>C	ENSP00000420321.1:n.88+34855A>C
ENST00000492990.1:c.89-21860A>C	ENSP00000419915.1:n.89-21860A>C
NM_002941.3:c.88+34855A>C	NP_002932.1:n.88+34855A>C
XM_011533976.1:c.88+34855A>C	XP_011532278.1:n.88+34855A>C
XM_011533977.1:c.88+34855A>C	XP_011532279.1:n.88+34855A>C
XM_011533978.1:c.88+34855A>C	XP_011532280.1:n.88+34855A>C
XM_011533979.1:c.88+34855A>C	XP_011532281.1:n.88+34855A>C
XM_011533980.1:c.88+34855A>C	XP_011532282.1:n.88+34855A>C
XM_011533977.2:c.88+34855A>C	XP_011532279.1:n.88+34855A>C
XM_017006982.1:c.88+34855A>C	XP_016862471.1:n.88+34855A>C
XM_017006984.1:c.88+34855A>C	XP_016862473.1:n.88+34855A>C
NM_002941.4:c.88+34855A>C MANE Select	NP_002932.1:n.88+34855A>C