Canonical Allele Identifier: CA389872030
Community Standard Title: NM_001079520.2(DACT1):c.2207C>T (p.Thr736Ile)
Gene: DACT1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.58646941C>T , CM000676.2:g.58646941C>T GRCh38
NC_000014.8:g.59113659C>T , CM000676.1:g.59113659C>T GRCh37
NC_000014.7:g.58183412C>T NCBI36
NG_032025.1:g.17874C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001079520.2:c.2207C>T MANE Select NP_001072988.1:p.Thr736Ile
ENST00000395153.8:c.2207C>T MANE Select ENSP00000378582.3:p.Thr736Ile
NM_001079520.1:c.2207C>T NP_001072988.1:p.Thr736Ile
NM_016651.5:c.2318C>T NP_057735.2:p.Thr773Ile
NM_016651.6:c.2318C>T NP_057735.2:p.Thr773Ile
NR_046093.1:n.1980C>T
NR_046093.2:n.1987C>T
NR_046095.1:n.2288C>T
NR_165650.1:n.2098C>T
NR_165651.1:n.2367C>T
NR_165652.1:n.2399C>T
ENST00000335867.4:c.2318C>T ENSP00000337439.4:p.Thr773Ile
ENST00000395153.7:c.2207C>T ENSP00000378582.3:p.Thr736Ile
ENST00000541264.2:c.1475C>T ENSP00000442850.2:p.Thr492Ile
ENST00000556859.5:c.1475C>T ENSP00000451598.1:p.Thr492Ile
ENST00000707126.1:c.2207C>T ENSP00000516754.1:p.Thr736Ile
XM_006720167.2:c.1475C>T XP_006720230.1:p.Thr492Ile
XM_006720167.3:c.1475C>T XP_006720230.1:p.Thr492Ile