Canonical Allele Identifier: CA383142460

Gene: ROBO3

Linked Data

• COSMIC: COSM3383290 ; COSM3383291
• MyVariant Identifiers: chr11:g.124742864G>T (hg19) ; chr11:g.124872968G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.124872968G>T , CM000673.2:g.124872968G>T	GRCh38
NC_000011.9:g.124742864G>T , CM000673.1:g.124742864G>T	GRCh37
NC_000011.8:g.124248074G>T	NCBI36
NG_016214.1:g.12560G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397801.6:c.1415G>T MANE Select	ENSP00000380903.1:p.Cys472Phe
ENST00000397801.5:c.1415G>T	ENSP00000380903.1:p.Cys472Phe
ENST00000538940.5:c.1349G>T	ENSP00000441797.1:p.Cys450Phe
NM_022370.3:c.1415G>T	NP_071765.2:p.Cys472Phe
XM_011542953.1:c.2387G>T	XP_011541255.1:p.Cys796Phe
XM_017018122.1:c.1349G>T	XP_016873611.1:p.Cys450Phe
NM_022370.4:c.1415G>T MANE Select	NP_071765.2:p.Cys472Phe