Canonical Allele Identifier: CA777684846
Gene: CABLES1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.23144364G>C , CM000680.2:g.23144364G>C GRCh38
NC_000018.9:g.20724328G>C , CM000680.1:g.20724328G>C GRCh37
NC_000018.8:g.18978326G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000256925.12:c.845+7757G>C MANE Select ENSP00000256925.7:n.845+7757G>C
ENST00000256925.11:c.845+7757G>C ENSP00000256925.7:n.845+7757G>C
ENST00000400473.6:c.-137+9694G>C ENSP00000383321.2:n.-137+9694G>C
ENST00000578052.1:n.59+7757G>C
ENST00000579963.5:c.-137+9713G>C ENSP00000464435.1:n.-137+9713G>C
ENST00000580153.5:c.-137+7757G>C ENSP00000461994.1:n.-137+7757G>C
ENST00000580644.5:n.115+7757G>C
ENST00000582882.5:c.184+7757G>C
ENST00000583220.5:n.149+7757G>C
NM_001100619.2:c.845+7757G>C NP_001094089.1:n.845+7757G>C
NM_001256438.1:c.-137+9694G>C NP_001243367.1:n.-137+9694G>C
NR_023359.1:n.88+9713G>C
NR_023359.2:n.88+9713G>C
NM_001100619.3:c.845+7757G>C MANE Select NP_001094089.1:n.845+7757G>C