Canonical Allele Identifier: CA344945317

Gene: TBCE

Linked Data

• MyVariant Identifiers: chr1:g.235602169A>C (hg19) ; chr1:g.235438854A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.235438854A>C , CM000663.2:g.235438854A>C	GRCh38
NC_000001.10:g.235602169A>C , CM000663.1:g.235602169A>C	GRCh37
NC_000001.9:g.233668792A>C	NCBI36
NG_009230.1:g.76442A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366601.8:c.1013A>C	ENSP00000355560.4:p.Asp338Ala
ENST00000406207.5:c.1202A>C	ENSP00000384571.1:p.Asp401Ala
ENST00000472011.6:n.1926A>C
ENST00000543662.4:c.1355A>C	ENSP00000439170.1:p.Asp452Ala
ENST00000642339.1:c.*899A>C	ENSP00000495425.1:n.*899A>C
ENST00000642431.1:c.1779A>C
ENST00000642463.1:c.*1100A>C	ENSP00000495007.1:n.*1100A>C
ENST00000642503.1:c.*976A>C	ENSP00000494334.1:n.*976A>C
ENST00000642610.2:c.1202A>C MANE Select	ENSP00000494796.1:p.Asp401Ala
ENST00000642764.1:n.2033A>C
ENST00000643125.1:c.*217A>C	ENSP00000494102.1:n.*217A>C
ENST00000643142.1:c.*693A>C	ENSP00000494755.1:n.*693A>C
ENST00000643238.1:c.*222A>C	ENSP00000495916.1:n.*222A>C
ENST00000643410.1:c.*492A>C	ENSP00000495030.1:n.*492A>C
ENST00000643487.1:n.1889A>C
ENST00000643524.1:c.*787A>C	ENSP00000494026.1:n.*787A>C
ENST00000643615.1:c.*1116+1380A>C	ENSP00000496103.1:n.*1116+1380A>C
ENST00000643993.1:n.1338A>C
ENST00000643994.1:c.*1202A>C	ENSP00000496322.1:n.*1202A>C
ENST00000644037.1:c.*1412A>C	ENSP00000496408.1:n.*1412A>C
ENST00000644055.1:c.*1827A>C	ENSP00000496307.1:n.*1827A>C
ENST00000644126.1:n.2874A>C
ENST00000644217.1:c.1202A>C	ENSP00000494646.1:p.Asp401Ala
ENST00000644265.1:c.571A>C
ENST00000644578.1:c.1016A>C	ENSP00000495953.1:p.Asp339Ala
ENST00000644604.1:c.1202A>C	ENSP00000495961.1:p.Asp401Ala
ENST00000644680.1:c.*1723A>C	ENSP00000496173.1:n.*1723A>C
ENST00000644838.1:c.*585A>C	ENSP00000495910.1:n.*585A>C
ENST00000644910.1:c.1809A>C
ENST00000645205.1:c.1202A>C	ENSP00000495823.1:p.Asp401Ala
ENST00000645351.1:c.1202A>C	ENSP00000494319.1:p.Asp401Ala
ENST00000645551.1:c.*919A>C	ENSP00000495928.1:n.*919A>C
ENST00000645578.1:c.*976A>C	ENSP00000496495.1:n.*976A>C
ENST00000645582.1:c.*1032A>C	ENSP00000494980.1:n.*1032A>C
ENST00000645655.1:c.1202A>C	ENSP00000495202.1:p.Asp401Ala
ENST00000645662.1:c.*661A>C	ENSP00000495964.1:n.*661A>C
ENST00000645836.1:c.*976A>C	ENSP00000493915.1:n.*976A>C
ENST00000645899.1:c.1202A>C	ENSP00000496773.1:p.Asp401Ala
ENST00000645964.1:c.*1068A>C	ENSP00000494208.1:n.*1068A>C
ENST00000646104.1:c.*1670A>C	ENSP00000495475.1:n.*1670A>C
ENST00000646186.1:c.*874A>C	ENSP00000493806.1:n.*874A>C
ENST00000646286.1:c.*1095A>C	ENSP00000494291.1:n.*1095A>C
ENST00000646463.1:c.*967A>C	ENSP00000494541.1:n.*967A>C
ENST00000646528.1:c.*1918A>C	ENSP00000496553.1:n.*1918A>C
ENST00000646536.1:c.*492A>C	ENSP00000494801.1:n.*492A>C
ENST00000646624.1:c.1202A>C	ENSP00000494575.1:p.Asp401Ala
ENST00000646821.1:c.*492A>C	ENSP00000495257.1:n.*492A>C
ENST00000646842.1:n.646A>C
ENST00000646848.1:c.*417A>C	ENSP00000495831.1:n.*417A>C
ENST00000647186.1:c.1202A>C	ENSP00000494775.1:p.Asp401Ala
ENST00000647233.1:n.2182A>C
ENST00000647322.1:c.793A>C
ENST00000647418.1:c.*976A>C	ENSP00000493552.1:n.*976A>C
ENST00000647428.1:c.863A>C	ENSP00000495630.1:p.Asp288Ala
ENST00000651186.1:c.863A>C	ENSP00000498645.1:p.Asp288Ala
ENST00000366601.7:c.1202A>C	ENSP00000355560.3:p.Asp401Ala
ENST00000406207.4:c.1202A>C	ENSP00000384571.1:p.Asp401Ala
ENST00000472011.5:n.1254A>C
ENST00000543662.3:c.1355A>C	ENSP00000439170.1:p.Asp452Ala
NM_001079515.2:c.1202A>C	NP_001072983.1:p.Asp401Ala
NM_001287801.1:c.1355A>C	NP_001274730.1:p.Asp452Ala
NM_001287802.1:c.863A>C	NP_001274731.1:p.Asp288Ala
NM_003193.4:c.1202A>C	NP_003184.1:p.Asp401Ala
NM_003193.5:c.1202A>C MANE Select	NP_003184.1:p.Asp401Ala
NM_001079515.3:c.1202A>C	NP_001072983.1:p.Asp401Ala
NM_001287801.2:c.1355A>C	NP_001274730.1:p.Asp452Ala
NM_001287802.2:c.863A>C	NP_001274731.1:p.Asp288Ala