Canonical Allele Identifier: CA39592796

Gene: TBCE

Linked Data

• dbSNP Id: rs574736385
• gnomAD v3: 1-235438900-C-T
• gnomAD v4: 1-235438900-C-T
• MyVariant Identifiers: chr1:g.235602215C>T (hg19) ; chr1:g.235438900C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.235438900C>T , CM000663.2:g.235438900C>T	GRCh38
NC_000001.10:g.235602215C>T , CM000663.1:g.235602215C>T	GRCh37
NC_000001.9:g.233668838C>T	NCBI36
NG_009230.1:g.76488C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366601.8:c.1059C>T	ENSP00000355560.4:p.Pro353=
ENST00000406207.5:c.1248C>T	ENSP00000384571.1:p.Pro416=
ENST00000472011.6:n.1972C>T
ENST00000543662.4:c.1401C>T	ENSP00000439170.1:p.Pro467=
ENST00000642339.1:c.*945C>T	ENSP00000495425.1:n.*945C>T
ENST00000642431.1:c.1825C>T
ENST00000642463.1:c.*1146C>T	ENSP00000495007.1:n.*1146C>T
ENST00000642503.1:c.*1022C>T	ENSP00000494334.1:n.*1022C>T
ENST00000642610.2:c.1248C>T MANE Select	ENSP00000494796.1:p.Pro416=
ENST00000642764.1:n.2079C>T
ENST00000643125.1:c.*263C>T	ENSP00000494102.1:n.*263C>T
ENST00000643142.1:c.*739C>T	ENSP00000494755.1:n.*739C>T
ENST00000643238.1:c.*268C>T	ENSP00000495916.1:n.*268C>T
ENST00000643410.1:c.*538C>T	ENSP00000495030.1:n.*538C>T
ENST00000643487.1:n.1935C>T
ENST00000643524.1:c.*833C>T	ENSP00000494026.1:n.*833C>T
ENST00000643615.1:c.*1116+1426C>T	ENSP00000496103.1:n.*1116+1426C>T
ENST00000643993.1:n.1384C>T
ENST00000643994.1:c.*1248C>T	ENSP00000496322.1:n.*1248C>T
ENST00000644037.1:c.*1458C>T	ENSP00000496408.1:n.*1458C>T
ENST00000644055.1:c.*1873C>T	ENSP00000496307.1:n.*1873C>T
ENST00000644126.1:n.2920C>T
ENST00000644217.1:c.1248C>T	ENSP00000494646.1:p.Pro416=
ENST00000644265.1:c.617C>T
ENST00000644578.1:c.1062C>T	ENSP00000495953.1:p.Pro354=
ENST00000644604.1:c.1248C>T	ENSP00000495961.1:p.Pro416=
ENST00000644680.1:c.*1769C>T	ENSP00000496173.1:n.*1769C>T
ENST00000644838.1:c.*631C>T	ENSP00000495910.1:n.*631C>T
ENST00000644910.1:c.1855C>T
ENST00000645205.1:c.1248C>T	ENSP00000495823.1:p.Pro416=
ENST00000645351.1:c.1248C>T	ENSP00000494319.1:p.Pro416=
ENST00000645551.1:c.*965C>T	ENSP00000495928.1:n.*965C>T
ENST00000645578.1:c.*1022C>T	ENSP00000496495.1:n.*1022C>T
ENST00000645582.1:c.*1078C>T	ENSP00000494980.1:n.*1078C>T
ENST00000645655.1:c.1248C>T	ENSP00000495202.1:p.Pro416=
ENST00000645662.1:c.*707C>T	ENSP00000495964.1:n.*707C>T
ENST00000645836.1:c.*1022C>T	ENSP00000493915.1:n.*1022C>T
ENST00000645899.1:c.1248C>T	ENSP00000496773.1:p.Pro416=
ENST00000645964.1:c.*1114C>T	ENSP00000494208.1:n.*1114C>T
ENST00000646104.1:c.*1716C>T	ENSP00000495475.1:n.*1716C>T
ENST00000646186.1:c.*920C>T	ENSP00000493806.1:n.*920C>T
ENST00000646286.1:c.*1141C>T	ENSP00000494291.1:n.*1141C>T
ENST00000646463.1:c.*1013C>T	ENSP00000494541.1:n.*1013C>T
ENST00000646528.1:c.*1964C>T	ENSP00000496553.1:n.*1964C>T
ENST00000646536.1:c.*538C>T	ENSP00000494801.1:n.*538C>T
ENST00000646624.1:c.1248C>T	ENSP00000494575.1:p.Pro416=
ENST00000646821.1:c.*538C>T	ENSP00000495257.1:n.*538C>T
ENST00000646842.1:n.692C>T
ENST00000646848.1:c.*463C>T	ENSP00000495831.1:n.*463C>T
ENST00000647186.1:c.1248C>T	ENSP00000494775.1:p.Pro416=
ENST00000647233.1:n.2228C>T
ENST00000647322.1:c.839C>T
ENST00000647418.1:c.*1022C>T	ENSP00000493552.1:n.*1022C>T
ENST00000647428.1:c.909C>T	ENSP00000495630.1:p.Pro303=
ENST00000651186.1:c.909C>T	ENSP00000498645.1:p.Pro303=
ENST00000366601.7:c.1248C>T	ENSP00000355560.3:p.Pro416=
ENST00000406207.4:c.1248C>T	ENSP00000384571.1:p.Pro416=
ENST00000472011.5:n.1300C>T
ENST00000543662.3:c.1401C>T	ENSP00000439170.1:p.Pro467=
NM_001079515.2:c.1248C>T	NP_001072983.1:p.Pro416=
NM_001287801.1:c.1401C>T	NP_001274730.1:p.Pro467=
NM_001287802.1:c.909C>T	NP_001274731.1:p.Pro303=
NM_003193.4:c.1248C>T	NP_003184.1:p.Pro416=
NM_003193.5:c.1248C>T MANE Select	NP_003184.1:p.Pro416=
NM_001079515.3:c.1248C>T	NP_001072983.1:p.Pro416=
NM_001287801.2:c.1401C>T	NP_001274730.1:p.Pro467=
NM_001287802.2:c.909C>T	NP_001274731.1:p.Pro303=