Canonical Allele Identifier: CA344944921

Gene: TBCE

Linked Data

• MyVariant Identifiers: chr1:g.235602121A>C (hg19) ; chr1:g.235438806A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.235438806A>C , CM000663.2:g.235438806A>C	GRCh38
NC_000001.10:g.235602121A>C , CM000663.1:g.235602121A>C	GRCh37
NC_000001.9:g.233668744A>C	NCBI36
NG_009230.1:g.76394A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366601.8:c.965A>C	ENSP00000355560.4:p.Tyr322Ser
ENST00000406207.5:c.1154A>C	ENSP00000384571.1:p.Tyr385Ser
ENST00000472011.6:n.1878A>C
ENST00000543662.4:c.1307A>C	ENSP00000439170.1:p.Tyr436Ser
ENST00000642339.1:c.*851A>C	ENSP00000495425.1:n.*851A>C
ENST00000642431.1:c.1731A>C
ENST00000642463.1:c.*1052A>C	ENSP00000495007.1:n.*1052A>C
ENST00000642503.1:c.*928A>C	ENSP00000494334.1:n.*928A>C
ENST00000642610.2:c.1154A>C MANE Select	ENSP00000494796.1:p.Tyr385Ser
ENST00000642764.1:n.1985A>C
ENST00000643125.1:c.*169A>C	ENSP00000494102.1:n.*169A>C
ENST00000643142.1:c.*645A>C	ENSP00000494755.1:n.*645A>C
ENST00000643238.1:c.*174A>C	ENSP00000495916.1:n.*174A>C
ENST00000643410.1:c.*444A>C	ENSP00000495030.1:n.*444A>C
ENST00000643487.1:n.1841A>C
ENST00000643524.1:c.*739A>C	ENSP00000494026.1:n.*739A>C
ENST00000643615.1:c.*1116+1332A>C	ENSP00000496103.1:n.*1116+1332A>C
ENST00000643993.1:n.1290A>C
ENST00000643994.1:c.*1154A>C	ENSP00000496322.1:n.*1154A>C
ENST00000644037.1:c.*1364A>C	ENSP00000496408.1:n.*1364A>C
ENST00000644055.1:c.*1779A>C	ENSP00000496307.1:n.*1779A>C
ENST00000644126.1:n.2826A>C
ENST00000644217.1:c.1154A>C	ENSP00000494646.1:p.Tyr385Ser
ENST00000644265.1:c.523A>C
ENST00000644578.1:c.968A>C	ENSP00000495953.1:p.Tyr323Ser
ENST00000644604.1:c.1154A>C	ENSP00000495961.1:p.Tyr385Ser
ENST00000644680.1:c.*1675A>C	ENSP00000496173.1:n.*1675A>C
ENST00000644838.1:c.*537A>C	ENSP00000495910.1:n.*537A>C
ENST00000644910.1:c.1761A>C
ENST00000645205.1:c.1154A>C	ENSP00000495823.1:p.Tyr385Ser
ENST00000645351.1:c.1154A>C	ENSP00000494319.1:p.Tyr385Ser
ENST00000645551.1:c.*871A>C	ENSP00000495928.1:n.*871A>C
ENST00000645578.1:c.*928A>C	ENSP00000496495.1:n.*928A>C
ENST00000645582.1:c.*984A>C	ENSP00000494980.1:n.*984A>C
ENST00000645655.1:c.1154A>C	ENSP00000495202.1:p.Tyr385Ser
ENST00000645662.1:c.*613A>C	ENSP00000495964.1:n.*613A>C
ENST00000645836.1:c.*928A>C	ENSP00000493915.1:n.*928A>C
ENST00000645899.1:c.1154A>C	ENSP00000496773.1:p.Tyr385Ser
ENST00000645964.1:c.*1020A>C	ENSP00000494208.1:n.*1020A>C
ENST00000646104.1:c.*1622A>C	ENSP00000495475.1:n.*1622A>C
ENST00000646186.1:c.*826A>C	ENSP00000493806.1:n.*826A>C
ENST00000646286.1:c.*1047A>C	ENSP00000494291.1:n.*1047A>C
ENST00000646463.1:c.*919A>C	ENSP00000494541.1:n.*919A>C
ENST00000646528.1:c.*1870A>C	ENSP00000496553.1:n.*1870A>C
ENST00000646536.1:c.*444A>C	ENSP00000494801.1:n.*444A>C
ENST00000646624.1:c.1154A>C	ENSP00000494575.1:p.Tyr385Ser
ENST00000646821.1:c.*444A>C	ENSP00000495257.1:n.*444A>C
ENST00000646842.1:n.598A>C
ENST00000646848.1:c.*369A>C	ENSP00000495831.1:n.*369A>C
ENST00000647186.1:c.1154A>C	ENSP00000494775.1:p.Tyr385Ser
ENST00000647233.1:n.2134A>C
ENST00000647322.1:c.745A>C
ENST00000647418.1:c.*928A>C	ENSP00000493552.1:n.*928A>C
ENST00000647428.1:c.815A>C	ENSP00000495630.1:p.Tyr272Ser
ENST00000651186.1:c.815A>C	ENSP00000498645.1:p.Tyr272Ser
ENST00000366601.7:c.1154A>C	ENSP00000355560.3:p.Tyr385Ser
ENST00000406207.4:c.1154A>C	ENSP00000384571.1:p.Tyr385Ser
ENST00000472011.5:n.1206A>C
ENST00000543662.3:c.1307A>C	ENSP00000439170.1:p.Tyr436Ser
NM_001079515.2:c.1154A>C	NP_001072983.1:p.Tyr385Ser
NM_001287801.1:c.1307A>C	NP_001274730.1:p.Tyr436Ser
NM_001287802.1:c.815A>C	NP_001274731.1:p.Tyr272Ser
NM_003193.4:c.1154A>C	NP_003184.1:p.Tyr385Ser
NM_003193.5:c.1154A>C MANE Select	NP_003184.1:p.Tyr385Ser
NM_001079515.3:c.1154A>C	NP_001072983.1:p.Tyr385Ser
NM_001287801.2:c.1307A>C	NP_001274730.1:p.Tyr436Ser
NM_001287802.2:c.815A>C	NP_001274731.1:p.Tyr272Ser