Canonical Allele Identifier: CA406612586
Community Standard Title: NM_001394372.1(BICRA):c.1292C>T (p.Thr431Ile)
Gene: BICRA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.47680462C>T , CM000681.2:g.47680462C>T GRCh38
NC_000019.9:g.48183719C>T , CM000681.1:g.48183719C>T GRCh37
NC_000019.8:g.52875531C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_001394372.1:c.1292C>T MANE Select NP_001381301.1:p.Thr431Ile
ENST00000594866.3:c.1292C>T MANE Select ENSP00000469738.2:p.Thr431Ile
NM_015711.3:c.1292C>T NP_056526.3:p.Thr431Ile
ENST00000396720.7:c.1292C>T ENSP00000379946.2:p.Thr431Ile
ENST00000614245.1:c.1136C>T ENSP00000480219.1:p.Thr379Ile
ENST00000614245.2:c.566C>T ENSP00000480219.2:p.Thr189Ile
XM_005258833.3:c.1292C>T XP_005258890.1:p.Thr431Ile
XM_005258833.4:c.1292C>T XP_005258890.1:p.Thr431Ile
XM_006723180.2:c.1292C>T XP_006723243.1:p.Thr431Ile
XM_006723180.3:c.1292C>T XP_006723243.1:p.Thr431Ile
XM_011526882.1:c.1154C>T XP_011525184.1:p.Thr385Ile
XM_011526882.2:c.1154C>T XP_011525184.1:p.Thr385Ile
XM_011526883.1:c.1292C>T XP_011525185.1:p.Thr431Ile
XM_011526883.2:c.1292C>T XP_011525185.1:p.Thr431Ile