Canonical Allele Identifier: CA10610422

Gene: TBCE

Linked Data

• ClinVar Variation Id: 296303
• ClinVar RCV Id: RCV000390004
• dbSNP Id: rs886046151
• gnomAD v4: 1-235437339-G-A
• MyVariant Identifiers: chr1:g.235600654G>A (hg19) ; chr1:g.235437339G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.235437339G>A , CM000663.2:g.235437339G>A	GRCh38
NC_000001.10:g.235600654G>A , CM000663.1:g.235600654G>A	GRCh37
NC_000001.9:g.233667277G>A	NCBI36
NG_009230.1:g.74927G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366601.8:c.792G>A	ENSP00000355560.4:p.Glu264=
ENST00000406207.5:c.981G>A	ENSP00000384571.1:p.Glu327=
ENST00000472011.6:n.1705G>A
ENST00000543662.4:c.1134G>A	ENSP00000439170.1:p.Glu378=
ENST00000642339.1:c.*678G>A	ENSP00000495425.1:n.*678G>A
ENST00000642431.1:c.1558G>A
ENST00000642463.1:c.*879G>A	ENSP00000495007.1:n.*879G>A
ENST00000642503.1:c.*755G>A	ENSP00000494334.1:n.*755G>A
ENST00000642610.2:c.981G>A MANE Select	ENSP00000494796.1:p.Glu327=
ENST00000642764.1:n.1812G>A
ENST00000643125.1:c.755G>A	ENSP00000494102.1:p.Ser252Asn
ENST00000643142.1:c.*472G>A	ENSP00000494755.1:n.*472G>A
ENST00000643238.1:c.*1G>A	ENSP00000495916.1:n.*1G>A
ENST00000643410.1:c.*271G>A	ENSP00000495030.1:n.*271G>A
ENST00000643487.1:n.1668G>A
ENST00000643524.1:c.*566G>A	ENSP00000494026.1:n.*566G>A
ENST00000643615.1:c.*981G>A	ENSP00000496103.1:n.*981G>A
ENST00000643993.1:n.1117G>A
ENST00000643994.1:c.*981G>A	ENSP00000496322.1:n.*981G>A
ENST00000644037.1:c.*1191G>A	ENSP00000496408.1:n.*1191G>A
ENST00000644055.1:c.*1606G>A	ENSP00000496307.1:n.*1606G>A
ENST00000644126.1:n.2653G>A
ENST00000644217.1:c.981G>A	ENSP00000494646.1:p.Glu327=
ENST00000644265.1:c.350G>A
ENST00000644578.1:c.795G>A	ENSP00000495953.1:p.Glu265=
ENST00000644604.1:c.981G>A	ENSP00000495961.1:p.Glu327=
ENST00000644680.1:c.*1502G>A	ENSP00000496173.1:n.*1502G>A
ENST00000644838.1:c.*364G>A	ENSP00000495910.1:n.*364G>A
ENST00000644910.1:c.1588G>A
ENST00000645205.1:c.981G>A	ENSP00000495823.1:p.Glu327=
ENST00000645351.1:c.981G>A	ENSP00000494319.1:p.Glu327=
ENST00000645551.1:c.*698G>A	ENSP00000495928.1:n.*698G>A
ENST00000645578.1:c.*755G>A	ENSP00000496495.1:n.*755G>A
ENST00000645582.1:c.*811G>A	ENSP00000494980.1:n.*811G>A
ENST00000645655.1:c.981G>A	ENSP00000495202.1:p.Glu327=
ENST00000645662.1:c.*440G>A	ENSP00000495964.1:n.*440G>A
ENST00000645836.1:c.*755G>A	ENSP00000493915.1:n.*755G>A
ENST00000645899.1:c.981G>A	ENSP00000496773.1:p.Glu327=
ENST00000645964.1:c.*847G>A	ENSP00000494208.1:n.*847G>A
ENST00000646104.1:c.*1449G>A	ENSP00000495475.1:n.*1449G>A
ENST00000646186.1:c.*653G>A	ENSP00000493806.1:n.*653G>A
ENST00000646281.1:c.981G>A	ENSP00000495225.1:p.Glu327=
ENST00000646286.1:c.*874G>A	ENSP00000494291.1:n.*874G>A
ENST00000646463.1:c.*746G>A	ENSP00000494541.1:n.*746G>A
ENST00000646528.1:c.*1697G>A	ENSP00000496553.1:n.*1697G>A
ENST00000646536.1:c.*271G>A	ENSP00000494801.1:n.*271G>A
ENST00000646624.1:c.981G>A	ENSP00000494575.1:p.Glu327=
ENST00000646821.1:c.*271G>A	ENSP00000495257.1:n.*271G>A
ENST00000646842.1:n.425G>A
ENST00000646848.1:c.*196G>A	ENSP00000495831.1:n.*196G>A
ENST00000647186.1:c.981G>A	ENSP00000494775.1:p.Glu327=
ENST00000647233.1:n.1961G>A
ENST00000647322.1:c.572G>A
ENST00000647332.1:c.*466G>A	ENSP00000495024.1:n.*466G>A
ENST00000647418.1:c.*755G>A	ENSP00000493552.1:n.*755G>A
ENST00000647428.1:c.642G>A	ENSP00000495630.1:p.Glu214=
ENST00000651186.1:c.642G>A	ENSP00000498645.1:p.Glu214=
ENST00000366601.7:c.981G>A	ENSP00000355560.3:p.Glu327=
ENST00000406207.4:c.981G>A	ENSP00000384571.1:p.Glu327=
ENST00000472011.5:n.1033G>A
ENST00000543662.3:c.1134G>A	ENSP00000439170.1:p.Glu378=
NM_001079515.2:c.981G>A	NP_001072983.1:p.Glu327=
NM_001287801.1:c.1134G>A	NP_001274730.1:p.Glu378=
NM_001287802.1:c.642G>A	NP_001274731.1:p.Glu214=
NM_003193.4:c.981G>A	NP_003184.1:p.Glu327=
NM_003193.5:c.981G>A MANE Select	NP_003184.1:p.Glu327=
NM_001079515.3:c.981G>A	NP_001072983.1:p.Glu327=
NM_001287801.2:c.1134G>A	NP_001274730.1:p.Glu378=
NM_001287802.2:c.642G>A	NP_001274731.1:p.Glu214=