Canonical Allele Identifier: CA344945623

Gene: TBCE

Linked Data

• gnomAD v4: 1-235438884-T-G
• MyVariant Identifiers: chr1:g.235602199T>G (hg19) ; chr1:g.235438884T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.235438884T>G , CM000663.2:g.235438884T>G	GRCh38
NC_000001.10:g.235602199T>G , CM000663.1:g.235602199T>G	GRCh37
NC_000001.9:g.233668822T>G	NCBI36
NG_009230.1:g.76472T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366601.8:c.1043T>G	ENSP00000355560.4:p.Phe348Cys
ENST00000406207.5:c.1232T>G	ENSP00000384571.1:p.Phe411Cys
ENST00000472011.6:n.1956T>G
ENST00000543662.4:c.1385T>G	ENSP00000439170.1:p.Phe462Cys
ENST00000642339.1:c.*929T>G	ENSP00000495425.1:n.*929T>G
ENST00000642431.1:c.1809T>G
ENST00000642463.1:c.*1130T>G	ENSP00000495007.1:n.*1130T>G
ENST00000642503.1:c.*1006T>G	ENSP00000494334.1:n.*1006T>G
ENST00000642610.2:c.1232T>G MANE Select	ENSP00000494796.1:p.Phe411Cys
ENST00000642764.1:n.2063T>G
ENST00000643125.1:c.*247T>G	ENSP00000494102.1:n.*247T>G
ENST00000643142.1:c.*723T>G	ENSP00000494755.1:n.*723T>G
ENST00000643238.1:c.*252T>G	ENSP00000495916.1:n.*252T>G
ENST00000643410.1:c.*522T>G	ENSP00000495030.1:n.*522T>G
ENST00000643487.1:n.1919T>G
ENST00000643524.1:c.*817T>G	ENSP00000494026.1:n.*817T>G
ENST00000643615.1:c.*1116+1410T>G	ENSP00000496103.1:n.*1116+1410T>G
ENST00000643993.1:n.1368T>G
ENST00000643994.1:c.*1232T>G	ENSP00000496322.1:n.*1232T>G
ENST00000644037.1:c.*1442T>G	ENSP00000496408.1:n.*1442T>G
ENST00000644055.1:c.*1857T>G	ENSP00000496307.1:n.*1857T>G
ENST00000644126.1:n.2904T>G
ENST00000644217.1:c.1232T>G	ENSP00000494646.1:p.Phe411Cys
ENST00000644265.1:c.601T>G
ENST00000644578.1:c.1046T>G	ENSP00000495953.1:p.Phe349Cys
ENST00000644604.1:c.1232T>G	ENSP00000495961.1:p.Phe411Cys
ENST00000644680.1:c.*1753T>G	ENSP00000496173.1:n.*1753T>G
ENST00000644838.1:c.*615T>G	ENSP00000495910.1:n.*615T>G
ENST00000644910.1:c.1839T>G
ENST00000645205.1:c.1232T>G	ENSP00000495823.1:p.Phe411Cys
ENST00000645351.1:c.1232T>G	ENSP00000494319.1:p.Phe411Cys
ENST00000645551.1:c.*949T>G	ENSP00000495928.1:n.*949T>G
ENST00000645578.1:c.*1006T>G	ENSP00000496495.1:n.*1006T>G
ENST00000645582.1:c.*1062T>G	ENSP00000494980.1:n.*1062T>G
ENST00000645655.1:c.1232T>G	ENSP00000495202.1:p.Phe411Cys
ENST00000645662.1:c.*691T>G	ENSP00000495964.1:n.*691T>G
ENST00000645836.1:c.*1006T>G	ENSP00000493915.1:n.*1006T>G
ENST00000645899.1:c.1232T>G	ENSP00000496773.1:p.Phe411Cys
ENST00000645964.1:c.*1098T>G	ENSP00000494208.1:n.*1098T>G
ENST00000646104.1:c.*1700T>G	ENSP00000495475.1:n.*1700T>G
ENST00000646186.1:c.*904T>G	ENSP00000493806.1:n.*904T>G
ENST00000646286.1:c.*1125T>G	ENSP00000494291.1:n.*1125T>G
ENST00000646463.1:c.*997T>G	ENSP00000494541.1:n.*997T>G
ENST00000646528.1:c.*1948T>G	ENSP00000496553.1:n.*1948T>G
ENST00000646536.1:c.*522T>G	ENSP00000494801.1:n.*522T>G
ENST00000646624.1:c.1232T>G	ENSP00000494575.1:p.Phe411Cys
ENST00000646821.1:c.*522T>G	ENSP00000495257.1:n.*522T>G
ENST00000646842.1:n.676T>G
ENST00000646848.1:c.*447T>G	ENSP00000495831.1:n.*447T>G
ENST00000647186.1:c.1232T>G	ENSP00000494775.1:p.Phe411Cys
ENST00000647233.1:n.2212T>G
ENST00000647322.1:c.823T>G
ENST00000647418.1:c.*1006T>G	ENSP00000493552.1:n.*1006T>G
ENST00000647428.1:c.893T>G	ENSP00000495630.1:p.Phe298Cys
ENST00000651186.1:c.893T>G	ENSP00000498645.1:p.Phe298Cys
ENST00000366601.7:c.1232T>G	ENSP00000355560.3:p.Phe411Cys
ENST00000406207.4:c.1232T>G	ENSP00000384571.1:p.Phe411Cys
ENST00000472011.5:n.1284T>G
ENST00000543662.3:c.1385T>G	ENSP00000439170.1:p.Phe462Cys
NM_001079515.2:c.1232T>G	NP_001072983.1:p.Phe411Cys
NM_001287801.1:c.1385T>G	NP_001274730.1:p.Phe462Cys
NM_001287802.1:c.893T>G	NP_001274731.1:p.Phe298Cys
NM_003193.4:c.1232T>G	NP_003184.1:p.Phe411Cys
NM_003193.5:c.1232T>G MANE Select	NP_003184.1:p.Phe411Cys
NM_001079515.3:c.1232T>G	NP_001072983.1:p.Phe411Cys
NM_001287801.2:c.1385T>G	NP_001274730.1:p.Phe462Cys
NM_001287802.2:c.893T>G	NP_001274731.1:p.Phe298Cys