Canonical Allele Identifier: CA876604
Community Standard Title: NM_001365792.1(DAB1):c.359T>C (p.Ile120Thr)
Gene: DAB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.57072362A>G , CM000663.2:g.57072362A>G GRCh38
NC_000001.10:g.57538035A>G , CM000663.1:g.57538035A>G GRCh37
NC_000001.9:g.57310623A>G NCBI36
NG_046914.2:g.1183186T>C

Transcript Alleles

HGVS Amino-acid Change
NM_001365792.1:c.359T>C MANE Select NP_001352721.1:p.Ile120Thr
ENST00000371236.7:c.359T>C MANE Select ENSP00000360280.1:p.Ile120Thr
NM_001353983.1:c.359T>C NP_001340912.1:p.Ile120Thr
NM_001353983.2:c.359T>C NP_001340912.1:p.Ile120Thr
NM_001353985.1:c.359T>C NP_001340914.1:p.Ile120Thr
NM_001353985.2:c.359T>C NP_001340914.1:p.Ile120Thr
NM_001353986.1:c.359T>C NP_001340915.1:p.Ile120Thr
NM_001353986.2:c.359T>C NP_001340915.1:p.Ile120Thr
NM_001365793.1:c.359T>C NP_001352722.1:p.Ile120Thr
NM_001365796.1:c.359T>C NP_001352725.1:p.Ile120Thr
NM_001379461.1:c.359T>C NP_001366390.1:p.Ile120Thr
NM_001379462.1:c.359T>C NP_001366391.1:p.Ile120Thr
NM_021080.3:c.359T>C NP_066566.3:p.Ile120Thr
NM_021080.4:c.359T>C NP_066566.3:p.Ile120Thr
NM_021080.5:c.359T>C NP_066566.3:p.Ile120Thr
ENST00000332102.10:c.359T>C ENSP00000329120.6:p.Ile120Thr
ENST00000371230.1:c.359T>C ENSP00000360274.1:p.Ile120Thr
ENST00000371231.5:c.359T>C ENSP00000360275.1:p.Ile120Thr
ENST00000371232.8:c.307-9419T>C ENSP00000360276.4:n.307-9419T>C
ENST00000371236.6:c.359T>C ENSP00000360280.1:p.Ile120Thr
ENST00000414851.6:c.359T>C ENSP00000387581.3:p.Ile120Thr
ENST00000420954.6:c.359T>C ENSP00000395296.2:p.Ile120Thr
ENST00000485760.5:n.1120T>C
ENST00000489267.1:n.94T>C