Canonical Allele Identifier: CA406616644
Community Standard Title: NM_001394372.1(BICRA):c.4438C>T (p.Pro1480Ser)
Gene: BICRA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.47702170C>T , CM000681.2:g.47702170C>T GRCh38
NC_000019.9:g.48205427C>T , CM000681.1:g.48205427C>T GRCh37
NC_000019.8:g.52897239C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_001394372.1:c.4438C>T MANE Select NP_001381301.1:p.Pro1480Ser
ENST00000594866.3:c.4438C>T MANE Select ENSP00000469738.2:p.Pro1480Ser
NM_015711.3:c.4438C>T NP_056526.3:p.Pro1480Ser
ENST00000396720.7:c.4438C>T ENSP00000379946.2:p.Pro1480Ser
ENST00000602258.1:n.2206C>T
ENST00000614245.1:c.4282C>T ENSP00000480219.1:p.Pro1428Ser
ENST00000614245.2:c.3712C>T ENSP00000480219.2:p.Pro1238Ser
XM_005258833.3:c.4438C>T XP_005258890.1:p.Pro1480Ser
XM_005258833.4:c.4438C>T XP_005258890.1:p.Pro1480Ser
XM_006723180.2:c.3358C>T XP_006723243.1:p.Pro1120Ser
XM_006723180.3:c.3358C>T XP_006723243.1:p.Pro1120Ser
XM_011526882.1:c.4300C>T XP_011525184.1:p.Pro1434Ser
XM_011526882.2:c.4300C>T XP_011525184.1:p.Pro1434Ser
XM_011526883.1:c.4261C>T XP_011525185.1:p.Pro1421Ser
XM_011526883.2:c.4261C>T XP_011525185.1:p.Pro1421Ser