Canonical Allele Identifier: CA344945643

Gene: TBCE

Linked Data

• dbSNP Id: rs1324661494
• gnomAD v2: 1-235602202-T-A
• gnomAD v4: 1-235438887-T-A
• MyVariant Identifiers: chr1:g.235602202T>A (hg19) ; chr1:g.235438887T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.235438887T>A , CM000663.2:g.235438887T>A	GRCh38
NC_000001.10:g.235602202T>A , CM000663.1:g.235602202T>A	GRCh37
NC_000001.9:g.233668825T>A	NCBI36
NG_009230.1:g.76475T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366601.8:c.1046T>A	ENSP00000355560.4:p.Leu349His
ENST00000406207.5:c.1235T>A	ENSP00000384571.1:p.Leu412His
ENST00000472011.6:n.1959T>A
ENST00000543662.4:c.1388T>A	ENSP00000439170.1:p.Leu463His
ENST00000642339.1:c.*932T>A	ENSP00000495425.1:n.*932T>A
ENST00000642431.1:c.1812T>A
ENST00000642463.1:c.*1133T>A	ENSP00000495007.1:n.*1133T>A
ENST00000642503.1:c.*1009T>A	ENSP00000494334.1:n.*1009T>A
ENST00000642610.2:c.1235T>A MANE Select	ENSP00000494796.1:p.Leu412His
ENST00000642764.1:n.2066T>A
ENST00000643125.1:c.*250T>A	ENSP00000494102.1:n.*250T>A
ENST00000643142.1:c.*726T>A	ENSP00000494755.1:n.*726T>A
ENST00000643238.1:c.*255T>A	ENSP00000495916.1:n.*255T>A
ENST00000643410.1:c.*525T>A	ENSP00000495030.1:n.*525T>A
ENST00000643487.1:n.1922T>A
ENST00000643524.1:c.*820T>A	ENSP00000494026.1:n.*820T>A
ENST00000643615.1:c.*1116+1413T>A	ENSP00000496103.1:n.*1116+1413T>A
ENST00000643993.1:n.1371T>A
ENST00000643994.1:c.*1235T>A	ENSP00000496322.1:n.*1235T>A
ENST00000644037.1:c.*1445T>A	ENSP00000496408.1:n.*1445T>A
ENST00000644055.1:c.*1860T>A	ENSP00000496307.1:n.*1860T>A
ENST00000644126.1:n.2907T>A
ENST00000644217.1:c.1235T>A	ENSP00000494646.1:p.Leu412His
ENST00000644265.1:c.604T>A
ENST00000644578.1:c.1049T>A	ENSP00000495953.1:p.Leu350His
ENST00000644604.1:c.1235T>A	ENSP00000495961.1:p.Leu412His
ENST00000644680.1:c.*1756T>A	ENSP00000496173.1:n.*1756T>A
ENST00000644838.1:c.*618T>A	ENSP00000495910.1:n.*618T>A
ENST00000644910.1:c.1842T>A
ENST00000645205.1:c.1235T>A	ENSP00000495823.1:p.Leu412His
ENST00000645351.1:c.1235T>A	ENSP00000494319.1:p.Leu412His
ENST00000645551.1:c.*952T>A	ENSP00000495928.1:n.*952T>A
ENST00000645578.1:c.*1009T>A	ENSP00000496495.1:n.*1009T>A
ENST00000645582.1:c.*1065T>A	ENSP00000494980.1:n.*1065T>A
ENST00000645655.1:c.1235T>A	ENSP00000495202.1:p.Leu412His
ENST00000645662.1:c.*694T>A	ENSP00000495964.1:n.*694T>A
ENST00000645836.1:c.*1009T>A	ENSP00000493915.1:n.*1009T>A
ENST00000645899.1:c.1235T>A	ENSP00000496773.1:p.Leu412His
ENST00000645964.1:c.*1101T>A	ENSP00000494208.1:n.*1101T>A
ENST00000646104.1:c.*1703T>A	ENSP00000495475.1:n.*1703T>A
ENST00000646186.1:c.*907T>A	ENSP00000493806.1:n.*907T>A
ENST00000646286.1:c.*1128T>A	ENSP00000494291.1:n.*1128T>A
ENST00000646463.1:c.*1000T>A	ENSP00000494541.1:n.*1000T>A
ENST00000646528.1:c.*1951T>A	ENSP00000496553.1:n.*1951T>A
ENST00000646536.1:c.*525T>A	ENSP00000494801.1:n.*525T>A
ENST00000646624.1:c.1235T>A	ENSP00000494575.1:p.Leu412His
ENST00000646821.1:c.*525T>A	ENSP00000495257.1:n.*525T>A
ENST00000646842.1:n.679T>A
ENST00000646848.1:c.*450T>A	ENSP00000495831.1:n.*450T>A
ENST00000647186.1:c.1235T>A	ENSP00000494775.1:p.Leu412His
ENST00000647233.1:n.2215T>A
ENST00000647322.1:c.826T>A
ENST00000647418.1:c.*1009T>A	ENSP00000493552.1:n.*1009T>A
ENST00000647428.1:c.896T>A	ENSP00000495630.1:p.Leu299His
ENST00000651186.1:c.896T>A	ENSP00000498645.1:p.Leu299His
ENST00000366601.7:c.1235T>A	ENSP00000355560.3:p.Leu412His
ENST00000406207.4:c.1235T>A	ENSP00000384571.1:p.Leu412His
ENST00000472011.5:n.1287T>A
ENST00000543662.3:c.1388T>A	ENSP00000439170.1:p.Leu463His
NM_001079515.2:c.1235T>A	NP_001072983.1:p.Leu412His
NM_001287801.1:c.1388T>A	NP_001274730.1:p.Leu463His
NM_001287802.1:c.896T>A	NP_001274731.1:p.Leu299His
NM_003193.4:c.1235T>A	NP_003184.1:p.Leu412His
NM_003193.5:c.1235T>A MANE Select	NP_003184.1:p.Leu412His
NM_001079515.3:c.1235T>A	NP_001072983.1:p.Leu412His
NM_001287801.2:c.1388T>A	NP_001274730.1:p.Leu463His
NM_001287802.2:c.896T>A	NP_001274731.1:p.Leu299His