Canonical Allele Identifier: CA344946020

Gene: TBCE

Linked Data

• MyVariant Identifiers: chr1:g.235602231T>A (hg19) ; chr1:g.235438916T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.235438916T>A , CM000663.2:g.235438916T>A	GRCh38
NC_000001.10:g.235602231T>A , CM000663.1:g.235602231T>A	GRCh37
NC_000001.9:g.233668854T>A	NCBI36
NG_009230.1:g.76504T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366601.8:c.1075T>A	ENSP00000355560.4:p.Cys359Ser
ENST00000406207.5:c.1264T>A	ENSP00000384571.1:p.Cys422Ser
ENST00000472011.6:n.1988T>A
ENST00000543662.4:c.1417T>A	ENSP00000439170.1:p.Cys473Ser
ENST00000642339.1:c.*961T>A	ENSP00000495425.1:n.*961T>A
ENST00000642431.1:c.1841T>A
ENST00000642463.1:c.*1162T>A	ENSP00000495007.1:n.*1162T>A
ENST00000642503.1:c.*1038T>A	ENSP00000494334.1:n.*1038T>A
ENST00000642610.2:c.1264T>A MANE Select	ENSP00000494796.1:p.Cys422Ser
ENST00000642764.1:n.2095T>A
ENST00000643125.1:c.*279T>A	ENSP00000494102.1:n.*279T>A
ENST00000643142.1:c.*755T>A	ENSP00000494755.1:n.*755T>A
ENST00000643238.1:c.*284T>A	ENSP00000495916.1:n.*284T>A
ENST00000643410.1:c.*554T>A	ENSP00000495030.1:n.*554T>A
ENST00000643487.1:n.1951T>A
ENST00000643524.1:c.*849T>A	ENSP00000494026.1:n.*849T>A
ENST00000643615.1:c.*1116+1442T>A	ENSP00000496103.1:n.*1116+1442T>A
ENST00000643993.1:n.1400T>A
ENST00000643994.1:c.*1264T>A	ENSP00000496322.1:n.*1264T>A
ENST00000644037.1:c.*1474T>A	ENSP00000496408.1:n.*1474T>A
ENST00000644055.1:c.*1889T>A	ENSP00000496307.1:n.*1889T>A
ENST00000644126.1:n.2936T>A
ENST00000644217.1:c.1264T>A	ENSP00000494646.1:p.Cys422Ser
ENST00000644265.1:c.633T>A
ENST00000644578.1:c.1078T>A	ENSP00000495953.1:p.Cys360Ser
ENST00000644604.1:c.1264T>A	ENSP00000495961.1:p.Cys422Ser
ENST00000644680.1:c.*1785T>A	ENSP00000496173.1:n.*1785T>A
ENST00000644838.1:c.*647T>A	ENSP00000495910.1:n.*647T>A
ENST00000644910.1:c.1871T>A
ENST00000645205.1:c.1264T>A	ENSP00000495823.1:p.Cys422Ser
ENST00000645351.1:c.1264T>A	ENSP00000494319.1:p.Cys422Ser
ENST00000645551.1:c.*981T>A	ENSP00000495928.1:n.*981T>A
ENST00000645578.1:c.*1038T>A	ENSP00000496495.1:n.*1038T>A
ENST00000645582.1:c.*1094T>A	ENSP00000494980.1:n.*1094T>A
ENST00000645655.1:c.1264T>A	ENSP00000495202.1:p.Cys422Ser
ENST00000645836.1:c.*1038T>A	ENSP00000493915.1:n.*1038T>A
ENST00000645899.1:c.1264T>A	ENSP00000496773.1:p.Cys422Ser
ENST00000645964.1:c.*1130T>A	ENSP00000494208.1:n.*1130T>A
ENST00000646104.1:c.*1732T>A	ENSP00000495475.1:n.*1732T>A
ENST00000646186.1:c.*936T>A	ENSP00000493806.1:n.*936T>A
ENST00000646286.1:c.*1157T>A	ENSP00000494291.1:n.*1157T>A
ENST00000646463.1:c.*1029T>A	ENSP00000494541.1:n.*1029T>A
ENST00000646528.1:c.*1980T>A	ENSP00000496553.1:n.*1980T>A
ENST00000646536.1:c.*554T>A	ENSP00000494801.1:n.*554T>A
ENST00000646624.1:c.1264T>A	ENSP00000494575.1:p.Cys422Ser
ENST00000646821.1:c.*554T>A	ENSP00000495257.1:n.*554T>A
ENST00000646842.1:n.708T>A
ENST00000646848.1:c.*479T>A	ENSP00000495831.1:n.*479T>A
ENST00000647186.1:c.1264T>A	ENSP00000494775.1:p.Cys422Ser
ENST00000647233.1:n.2244T>A
ENST00000647322.1:c.855T>A
ENST00000647418.1:c.*1038T>A	ENSP00000493552.1:n.*1038T>A
ENST00000647428.1:c.925T>A	ENSP00000495630.1:p.Cys309Ser
ENST00000651186.1:c.925T>A	ENSP00000498645.1:p.Cys309Ser
ENST00000366601.7:c.1264T>A	ENSP00000355560.3:p.Cys422Ser
ENST00000406207.4:c.1264T>A	ENSP00000384571.1:p.Cys422Ser
ENST00000472011.5:n.1316T>A
ENST00000543662.3:c.1417T>A	ENSP00000439170.1:p.Cys473Ser
NM_001079515.2:c.1264T>A	NP_001072983.1:p.Cys422Ser
NM_001287801.1:c.1417T>A	NP_001274730.1:p.Cys473Ser
NM_001287802.1:c.925T>A	NP_001274731.1:p.Cys309Ser
NM_003193.4:c.1264T>A	NP_003184.1:p.Cys422Ser
NM_003193.5:c.1264T>A MANE Select	NP_003184.1:p.Cys422Ser
NM_001079515.3:c.1264T>A	NP_001072983.1:p.Cys422Ser
NM_001287801.2:c.1417T>A	NP_001274730.1:p.Cys473Ser
NM_001287802.2:c.925T>A	NP_001274731.1:p.Cys309Ser