Canonical Allele Identifier: CA14511685

Gene: CABLES1

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23147647C>T , CM000680.2:g.23147647C>T	GRCh38
NC_000018.9:g.20727611C>T , CM000680.1:g.20727611C>T	GRCh37
NC_000018.8:g.18981609C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_001100619.3:c.845+11040C>T MANE Select	NP_001094089.1:n.845+11040C>T
ENST00000256925.12:c.845+11040C>T MANE Select	ENSP00000256925.7:n.845+11040C>T
NM_001100619.2:c.845+11040C>T	NP_001094089.1:n.845+11040C>T
NM_001256438.1:c.-137+12977C>T	NP_001243367.1:n.-137+12977C>T
NR_023359.1:n.88+12996C>T
NR_023359.2:n.88+12996C>T
ENST00000256925.11:c.845+11040C>T	ENSP00000256925.7:n.845+11040C>T
ENST00000400473.6:c.-137+12977C>T	ENSP00000383321.2:n.-137+12977C>T
ENST00000578052.1:n.59+11040C>T
ENST00000579963.5:c.-137+12996C>T	ENSP00000464435.1:n.-137+12996C>T
ENST00000580153.5:c.-137+11040C>T	ENSP00000461994.1:n.-137+11040C>T
ENST00000580644.5:n.115+11040C>T
ENST00000582882.5:c.184+11040C>T
ENST00000583220.5:n.149+11040C>T