Canonical Allele Identifier: CA1464270
Community Standard Title: NM_003193.5(TBCE):c.945C>T (p.Asn315=)
Gene: TBCE HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.235436590C>T , CM000663.2:g.235436590C>T GRCh38
NC_000001.10:g.235599905C>T , CM000663.1:g.235599905C>T GRCh37
NC_000001.9:g.233666528C>T NCBI36
NG_009230.1:g.74178C>T

Transcript Alleles

HGVS Amino-acid Change
NM_003193.5:c.945C>T MANE Select NP_003184.1:p.Asn315=
ENST00000642610.2:c.945C>T MANE Select ENSP00000494796.1:p.Asn315=
NM_001079515.2:c.945C>T NP_001072983.1:p.Asn315=
NM_001079515.3:c.945C>T NP_001072983.1:p.Asn315=
NM_001287801.1:c.1098C>T NP_001274730.1:p.Asn366=
NM_001287801.2:c.1098C>T NP_001274730.1:p.Asn366=
NM_001287802.1:c.606C>T NP_001274731.1:p.Asn202=
NM_001287802.2:c.606C>T NP_001274731.1:p.Asn202=
NM_003193.4:c.945C>T NP_003184.1:p.Asn315=
ENST00000366601.7:c.945C>T ENSP00000355560.3:p.Asn315=
ENST00000366601.8:c.756C>T ENSP00000355560.4:p.Asn252=
ENST00000406207.4:c.945C>T ENSP00000384571.1:p.Asn315=
ENST00000406207.5:c.945C>T ENSP00000384571.1:p.Asn315=
ENST00000472011.5:n.997C>T
ENST00000472011.6:n.1669C>T
ENST00000543662.3:c.1098C>T ENSP00000439170.1:p.Asn366=
ENST00000543662.4:c.1098C>T ENSP00000439170.1:p.Asn366=
ENST00000642339.1:c.*642C>T ENSP00000495425.1:n.*642C>T
ENST00000642431.1:c.1522C>T
ENST00000642463.1:c.*843C>T ENSP00000495007.1:n.*843C>T
ENST00000642503.1:c.*719C>T ENSP00000494334.1:n.*719C>T
ENST00000642764.1:n.1776C>T
ENST00000643125.1:c.738-732C>T ENSP00000494102.1:n.738-732C>T
ENST00000643142.1:c.*436C>T ENSP00000494755.1:n.*436C>T
ENST00000643238.1:c.638-732C>T ENSP00000495916.1:n.638-732C>T
ENST00000643410.1:c.*235C>T ENSP00000495030.1:n.*235C>T
ENST00000643487.1:n.1632C>T
ENST00000643524.1:c.*530C>T ENSP00000494026.1:n.*530C>T
ENST00000643615.1:c.*945C>T ENSP00000496103.1:n.*945C>T
ENST00000643993.1:n.1081C>T
ENST00000643994.1:c.*945C>T ENSP00000496322.1:n.*945C>T
ENST00000644037.1:c.*1155C>T ENSP00000496408.1:n.*1155C>T
ENST00000644055.1:c.*1570C>T ENSP00000496307.1:n.*1570C>T
ENST00000644126.1:n.2617C>T
ENST00000644217.1:c.945C>T ENSP00000494646.1:p.Asn315=
ENST00000644265.1:c.333-732C>T
ENST00000644578.1:c.759C>T ENSP00000495953.1:p.Asn253=
ENST00000644604.1:c.945C>T ENSP00000495961.1:p.Asn315=
ENST00000644680.1:c.*1466C>T ENSP00000496173.1:n.*1466C>T
ENST00000644838.1:c.*328C>T ENSP00000495910.1:n.*328C>T
ENST00000644910.1:c.1552C>T
ENST00000645205.1:c.945C>T ENSP00000495823.1:p.Asn315=
ENST00000645351.1:c.945C>T ENSP00000494319.1:p.Asn315=
ENST00000645551.1:c.*662C>T ENSP00000495928.1:n.*662C>T
ENST00000645578.1:c.*719C>T ENSP00000496495.1:n.*719C>T
ENST00000645582.1:c.*775C>T ENSP00000494980.1:n.*775C>T
ENST00000645655.1:c.945C>T ENSP00000495202.1:p.Asn315=
ENST00000645662.1:c.*423-732C>T ENSP00000495964.1:n.*423-732C>T
ENST00000645836.1:c.*719C>T ENSP00000493915.1:n.*719C>T
ENST00000645899.1:c.945C>T ENSP00000496773.1:p.Asn315=
ENST00000645964.1:c.*811C>T ENSP00000494208.1:n.*811C>T
ENST00000646104.1:c.*1413C>T ENSP00000495475.1:n.*1413C>T
ENST00000646186.1:c.*617C>T ENSP00000493806.1:n.*617C>T
ENST00000646281.1:c.945C>T ENSP00000495225.1:p.Asn315=
ENST00000646286.1:c.*838C>T ENSP00000494291.1:n.*838C>T
ENST00000646463.1:c.*710C>T ENSP00000494541.1:n.*710C>T
ENST00000646528.1:c.*1661C>T ENSP00000496553.1:n.*1661C>T
ENST00000646536.1:c.*235C>T ENSP00000494801.1:n.*235C>T
ENST00000646624.1:c.945C>T ENSP00000494575.1:p.Asn315=
ENST00000646821.1:c.*235C>T ENSP00000495257.1:n.*235C>T
ENST00000646842.1:n.408-732C>T
ENST00000646848.1:c.*160C>T ENSP00000495831.1:n.*160C>T
ENST00000647186.1:c.945C>T ENSP00000494775.1:p.Asn315=
ENST00000647233.1:n.1925C>T
ENST00000647322.1:c.555-732C>T
ENST00000647332.1:c.*430C>T ENSP00000495024.1:n.*430C>T
ENST00000647418.1:c.*719C>T ENSP00000493552.1:n.*719C>T
ENST00000647428.1:c.606C>T ENSP00000495630.1:p.Asn202=
ENST00000651186.1:c.606C>T ENSP00000498645.1:p.Asn202=