Canonical Allele Identifier: CA423771846

Gene: TBCE

Linked Data

• MyVariant Identifiers: chr1:g.235602203C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.235438888C>T , CM000663.2:g.235438888C>T	GRCh38
NC_000001.10:g.235602203C>T , CM000663.1:g.235602203C>T	GRCh37
NC_000001.9:g.233668826C>T	NCBI36
NG_009230.1:g.76476C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366601.8:c.1047C>T	ENSP00000355560.4:p.Leu349=
ENST00000406207.5:c.1236C>T	ENSP00000384571.1:p.Leu412=
ENST00000472011.6:n.1960C>T
ENST00000543662.4:c.1389C>T	ENSP00000439170.1:p.Leu463=
ENST00000642339.1:c.*933C>T	ENSP00000495425.1:n.*933C>T
ENST00000642431.1:c.1813C>T
ENST00000642463.1:c.*1134C>T	ENSP00000495007.1:n.*1134C>T
ENST00000642503.1:c.*1010C>T	ENSP00000494334.1:n.*1010C>T
ENST00000642610.2:c.1236C>T MANE Select	ENSP00000494796.1:p.Leu412=
ENST00000642764.1:n.2067C>T
ENST00000643125.1:c.*251C>T	ENSP00000494102.1:n.*251C>T
ENST00000643142.1:c.*727C>T	ENSP00000494755.1:n.*727C>T
ENST00000643238.1:c.*256C>T	ENSP00000495916.1:n.*256C>T
ENST00000643410.1:c.*526C>T	ENSP00000495030.1:n.*526C>T
ENST00000643487.1:n.1923C>T
ENST00000643524.1:c.*821C>T	ENSP00000494026.1:n.*821C>T
ENST00000643615.1:c.*1116+1414C>T	ENSP00000496103.1:n.*1116+1414C>T
ENST00000643993.1:n.1372C>T
ENST00000643994.1:c.*1236C>T	ENSP00000496322.1:n.*1236C>T
ENST00000644037.1:c.*1446C>T	ENSP00000496408.1:n.*1446C>T
ENST00000644055.1:c.*1861C>T	ENSP00000496307.1:n.*1861C>T
ENST00000644126.1:n.2908C>T
ENST00000644217.1:c.1236C>T	ENSP00000494646.1:p.Leu412=
ENST00000644265.1:c.605C>T
ENST00000644578.1:c.1050C>T	ENSP00000495953.1:p.Leu350=
ENST00000644604.1:c.1236C>T	ENSP00000495961.1:p.Leu412=
ENST00000644680.1:c.*1757C>T	ENSP00000496173.1:n.*1757C>T
ENST00000644838.1:c.*619C>T	ENSP00000495910.1:n.*619C>T
ENST00000644910.1:c.1843C>T
ENST00000645205.1:c.1236C>T	ENSP00000495823.1:p.Leu412=
ENST00000645351.1:c.1236C>T	ENSP00000494319.1:p.Leu412=
ENST00000645551.1:c.*953C>T	ENSP00000495928.1:n.*953C>T
ENST00000645578.1:c.*1010C>T	ENSP00000496495.1:n.*1010C>T
ENST00000645582.1:c.*1066C>T	ENSP00000494980.1:n.*1066C>T
ENST00000645655.1:c.1236C>T	ENSP00000495202.1:p.Leu412=
ENST00000645662.1:c.*695C>T	ENSP00000495964.1:n.*695C>T
ENST00000645836.1:c.*1010C>T	ENSP00000493915.1:n.*1010C>T
ENST00000645899.1:c.1236C>T	ENSP00000496773.1:p.Leu412=
ENST00000645964.1:c.*1102C>T	ENSP00000494208.1:n.*1102C>T
ENST00000646104.1:c.*1704C>T	ENSP00000495475.1:n.*1704C>T
ENST00000646186.1:c.*908C>T	ENSP00000493806.1:n.*908C>T
ENST00000646286.1:c.*1129C>T	ENSP00000494291.1:n.*1129C>T
ENST00000646463.1:c.*1001C>T	ENSP00000494541.1:n.*1001C>T
ENST00000646528.1:c.*1952C>T	ENSP00000496553.1:n.*1952C>T
ENST00000646536.1:c.*526C>T	ENSP00000494801.1:n.*526C>T
ENST00000646624.1:c.1236C>T	ENSP00000494575.1:p.Leu412=
ENST00000646821.1:c.*526C>T	ENSP00000495257.1:n.*526C>T
ENST00000646842.1:n.680C>T
ENST00000646848.1:c.*451C>T	ENSP00000495831.1:n.*451C>T
ENST00000647186.1:c.1236C>T	ENSP00000494775.1:p.Leu412=
ENST00000647233.1:n.2216C>T
ENST00000647322.1:c.827C>T
ENST00000647418.1:c.*1010C>T	ENSP00000493552.1:n.*1010C>T
ENST00000647428.1:c.897C>T	ENSP00000495630.1:p.Leu299=
ENST00000651186.1:c.897C>T	ENSP00000498645.1:p.Leu299=
ENST00000366601.7:c.1236C>T	ENSP00000355560.3:p.Leu412=
ENST00000406207.4:c.1236C>T	ENSP00000384571.1:p.Leu412=
ENST00000472011.5:n.1288C>T
ENST00000543662.3:c.1389C>T	ENSP00000439170.1:p.Leu463=
NM_001079515.2:c.1236C>T	NP_001072983.1:p.Leu412=
NM_001287801.1:c.1389C>T	NP_001274730.1:p.Leu463=
NM_001287802.1:c.897C>T	NP_001274731.1:p.Leu299=
NM_003193.4:c.1236C>T	NP_003184.1:p.Leu412=
NM_003193.5:c.1236C>T MANE Select	NP_003184.1:p.Leu412=
NM_001079515.3:c.1236C>T	NP_001072983.1:p.Leu412=
NM_001287801.2:c.1389C>T	NP_001274730.1:p.Leu463=
NM_001287802.2:c.897C>T	NP_001274731.1:p.Leu299=