Canonical Allele Identifier: CA344945672

Gene: TBCE

Linked Data

• gnomAD v4: 1-235438889-A-C
• MyVariant Identifiers: chr1:g.235602204A>C (hg19) ; chr1:g.235438889A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.235438889A>C , CM000663.2:g.235438889A>C	GRCh38
NC_000001.10:g.235602204A>C , CM000663.1:g.235602204A>C	GRCh37
NC_000001.9:g.233668827A>C	NCBI36
NG_009230.1:g.76477A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366601.8:c.1048A>C	ENSP00000355560.4:p.Thr350Pro
ENST00000406207.5:c.1237A>C	ENSP00000384571.1:p.Thr413Pro
ENST00000472011.6:n.1961A>C
ENST00000543662.4:c.1390A>C	ENSP00000439170.1:p.Thr464Pro
ENST00000642339.1:c.*934A>C	ENSP00000495425.1:n.*934A>C
ENST00000642431.1:c.1814A>C
ENST00000642463.1:c.*1135A>C	ENSP00000495007.1:n.*1135A>C
ENST00000642503.1:c.*1011A>C	ENSP00000494334.1:n.*1011A>C
ENST00000642610.2:c.1237A>C MANE Select	ENSP00000494796.1:p.Thr413Pro
ENST00000642764.1:n.2068A>C
ENST00000643125.1:c.*252A>C	ENSP00000494102.1:n.*252A>C
ENST00000643142.1:c.*728A>C	ENSP00000494755.1:n.*728A>C
ENST00000643238.1:c.*257A>C	ENSP00000495916.1:n.*257A>C
ENST00000643410.1:c.*527A>C	ENSP00000495030.1:n.*527A>C
ENST00000643487.1:n.1924A>C
ENST00000643524.1:c.*822A>C	ENSP00000494026.1:n.*822A>C
ENST00000643615.1:c.*1116+1415A>C	ENSP00000496103.1:n.*1116+1415A>C
ENST00000643993.1:n.1373A>C
ENST00000643994.1:c.*1237A>C	ENSP00000496322.1:n.*1237A>C
ENST00000644037.1:c.*1447A>C	ENSP00000496408.1:n.*1447A>C
ENST00000644055.1:c.*1862A>C	ENSP00000496307.1:n.*1862A>C
ENST00000644126.1:n.2909A>C
ENST00000644217.1:c.1237A>C	ENSP00000494646.1:p.Thr413Pro
ENST00000644265.1:c.606A>C
ENST00000644578.1:c.1051A>C	ENSP00000495953.1:p.Thr351Pro
ENST00000644604.1:c.1237A>C	ENSP00000495961.1:p.Thr413Pro
ENST00000644680.1:c.*1758A>C	ENSP00000496173.1:n.*1758A>C
ENST00000644838.1:c.*620A>C	ENSP00000495910.1:n.*620A>C
ENST00000644910.1:c.1844A>C
ENST00000645205.1:c.1237A>C	ENSP00000495823.1:p.Thr413Pro
ENST00000645351.1:c.1237A>C	ENSP00000494319.1:p.Thr413Pro
ENST00000645551.1:c.*954A>C	ENSP00000495928.1:n.*954A>C
ENST00000645578.1:c.*1011A>C	ENSP00000496495.1:n.*1011A>C
ENST00000645582.1:c.*1067A>C	ENSP00000494980.1:n.*1067A>C
ENST00000645655.1:c.1237A>C	ENSP00000495202.1:p.Thr413Pro
ENST00000645662.1:c.*696A>C	ENSP00000495964.1:n.*696A>C
ENST00000645836.1:c.*1011A>C	ENSP00000493915.1:n.*1011A>C
ENST00000645899.1:c.1237A>C	ENSP00000496773.1:p.Thr413Pro
ENST00000645964.1:c.*1103A>C	ENSP00000494208.1:n.*1103A>C
ENST00000646104.1:c.*1705A>C	ENSP00000495475.1:n.*1705A>C
ENST00000646186.1:c.*909A>C	ENSP00000493806.1:n.*909A>C
ENST00000646286.1:c.*1130A>C	ENSP00000494291.1:n.*1130A>C
ENST00000646463.1:c.*1002A>C	ENSP00000494541.1:n.*1002A>C
ENST00000646528.1:c.*1953A>C	ENSP00000496553.1:n.*1953A>C
ENST00000646536.1:c.*527A>C	ENSP00000494801.1:n.*527A>C
ENST00000646624.1:c.1237A>C	ENSP00000494575.1:p.Thr413Pro
ENST00000646821.1:c.*527A>C	ENSP00000495257.1:n.*527A>C
ENST00000646842.1:n.681A>C
ENST00000646848.1:c.*452A>C	ENSP00000495831.1:n.*452A>C
ENST00000647186.1:c.1237A>C	ENSP00000494775.1:p.Thr413Pro
ENST00000647233.1:n.2217A>C
ENST00000647322.1:c.828A>C
ENST00000647418.1:c.*1011A>C	ENSP00000493552.1:n.*1011A>C
ENST00000647428.1:c.898A>C	ENSP00000495630.1:p.Thr300Pro
ENST00000651186.1:c.898A>C	ENSP00000498645.1:p.Thr300Pro
ENST00000366601.7:c.1237A>C	ENSP00000355560.3:p.Thr413Pro
ENST00000406207.4:c.1237A>C	ENSP00000384571.1:p.Thr413Pro
ENST00000472011.5:n.1289A>C
ENST00000543662.3:c.1390A>C	ENSP00000439170.1:p.Thr464Pro
NM_001079515.2:c.1237A>C	NP_001072983.1:p.Thr413Pro
NM_001287801.1:c.1390A>C	NP_001274730.1:p.Thr464Pro
NM_001287802.1:c.898A>C	NP_001274731.1:p.Thr300Pro
NM_003193.4:c.1237A>C	NP_003184.1:p.Thr413Pro
NM_003193.5:c.1237A>C MANE Select	NP_003184.1:p.Thr413Pro
NM_001079515.3:c.1237A>C	NP_001072983.1:p.Thr413Pro
NM_001287801.2:c.1390A>C	NP_001274730.1:p.Thr464Pro
NM_001287802.2:c.898A>C	NP_001274731.1:p.Thr300Pro