Canonical Allele Identifier: CA7703826
Community Standard Title: NM_001717.4(BNC1):c.2273C>T (p.Thr758Ile)
Gene: BNC1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.83262978G>A , CM000677.2:g.83262978G>A GRCh38
NC_000015.9:g.83931730G>A , CM000677.1:g.83931730G>A GRCh37
NC_000015.8:g.81722734G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_001717.4:c.2273C>T MANE Select NP_001708.3:p.Thr758Ile
ENST00000345382.7:c.2273C>T MANE Select ENSP00000307041.2:p.Thr758Ile
NM_001301206.1:c.2252C>T NP_001288135.1:p.Thr751Ile
NM_001301206.2:c.2252C>T NP_001288135.1:p.Thr751Ile
NM_001717.3:c.2273C>T NP_001708.3:p.Thr758Ile
ENST00000345382.6:c.2273C>T ENSP00000307041.2:p.Thr758Ile
ENST00000569704.1:c.2252C>T ENSP00000456727.1:p.Thr751Ile
ENST00000569704.2:c.2252C>T ENSP00000456727.1:p.Thr751Ile
ENST00000618086.4:c.2270C>T ENSP00000478817.1:p.Thr757Ile
XM_011521893.1:c.2198C>T XP_011520195.1:p.Thr733Ile
XM_011521894.1:c.1919C>T XP_011520196.1:p.Thr640Ile