Canonical Allele Identifier: CA423770799

Gene: TBCE

Linked Data

• MyVariant Identifiers: chr1:g.235600768G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.235437453G>T , CM000663.2:g.235437453G>T	GRCh38
NC_000001.10:g.235600768G>T , CM000663.1:g.235600768G>T	GRCh37
NC_000001.9:g.233667391G>T	NCBI36
NG_009230.1:g.75041G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366601.8:c.906G>T	ENSP00000355560.4:p.Leu302=
ENST00000406207.5:c.1095G>T	ENSP00000384571.1:p.Leu365=
ENST00000472011.6:n.1819G>T
ENST00000543662.4:c.1248G>T	ENSP00000439170.1:p.Leu416=
ENST00000642339.1:c.*792G>T	ENSP00000495425.1:n.*792G>T
ENST00000642431.1:c.1672G>T
ENST00000642463.1:c.*993G>T	ENSP00000495007.1:n.*993G>T
ENST00000642503.1:c.*869G>T	ENSP00000494334.1:n.*869G>T
ENST00000642610.2:c.1095G>T MANE Select	ENSP00000494796.1:p.Leu365=
ENST00000642764.1:n.1926G>T
ENST00000643125.1:c.*110G>T	ENSP00000494102.1:n.*110G>T
ENST00000643142.1:c.*586G>T	ENSP00000494755.1:n.*586G>T
ENST00000643238.1:c.*115G>T	ENSP00000495916.1:n.*115G>T
ENST00000643410.1:c.*385G>T	ENSP00000495030.1:n.*385G>T
ENST00000643487.1:n.1782G>T
ENST00000643524.1:c.*680G>T	ENSP00000494026.1:n.*680G>T
ENST00000643615.1:c.*1095G>T	ENSP00000496103.1:n.*1095G>T
ENST00000643993.1:n.1231G>T
ENST00000643994.1:c.*1095G>T	ENSP00000496322.1:n.*1095G>T
ENST00000644037.1:c.*1305G>T	ENSP00000496408.1:n.*1305G>T
ENST00000644055.1:c.*1720G>T	ENSP00000496307.1:n.*1720G>T
ENST00000644126.1:n.2767G>T
ENST00000644217.1:c.1095G>T	ENSP00000494646.1:p.Leu365=
ENST00000644265.1:c.464G>T
ENST00000644578.1:c.909G>T	ENSP00000495953.1:p.Leu303=
ENST00000644604.1:c.1095G>T	ENSP00000495961.1:p.Leu365=
ENST00000644680.1:c.*1616G>T	ENSP00000496173.1:n.*1616G>T
ENST00000644838.1:c.*478G>T	ENSP00000495910.1:n.*478G>T
ENST00000644910.1:c.1702G>T
ENST00000645205.1:c.1095G>T	ENSP00000495823.1:p.Leu365=
ENST00000645351.1:c.1095G>T	ENSP00000494319.1:p.Leu365=
ENST00000645551.1:c.*812G>T	ENSP00000495928.1:n.*812G>T
ENST00000645578.1:c.*869G>T	ENSP00000496495.1:n.*869G>T
ENST00000645582.1:c.*925G>T	ENSP00000494980.1:n.*925G>T
ENST00000645655.1:c.1095G>T	ENSP00000495202.1:p.Leu365=
ENST00000645662.1:c.*554G>T	ENSP00000495964.1:n.*554G>T
ENST00000645836.1:c.*869G>T	ENSP00000493915.1:n.*869G>T
ENST00000645899.1:c.1095G>T	ENSP00000496773.1:p.Leu365=
ENST00000645964.1:c.*961G>T	ENSP00000494208.1:n.*961G>T
ENST00000646104.1:c.*1563G>T	ENSP00000495475.1:n.*1563G>T
ENST00000646186.1:c.*767G>T	ENSP00000493806.1:n.*767G>T
ENST00000646281.1:c.1095G>T	ENSP00000495225.1:p.Leu365=
ENST00000646286.1:c.*988G>T	ENSP00000494291.1:n.*988G>T
ENST00000646463.1:c.*860G>T	ENSP00000494541.1:n.*860G>T
ENST00000646528.1:c.*1811G>T	ENSP00000496553.1:n.*1811G>T
ENST00000646536.1:c.*385G>T	ENSP00000494801.1:n.*385G>T
ENST00000646624.1:c.1095G>T	ENSP00000494575.1:p.Leu365=
ENST00000646821.1:c.*385G>T	ENSP00000495257.1:n.*385G>T
ENST00000646842.1:n.539G>T
ENST00000646848.1:c.*310G>T	ENSP00000495831.1:n.*310G>T
ENST00000647186.1:c.1095G>T	ENSP00000494775.1:p.Leu365=
ENST00000647233.1:n.2075G>T
ENST00000647322.1:c.686G>T
ENST00000647418.1:c.*869G>T	ENSP00000493552.1:n.*869G>T
ENST00000647428.1:c.756G>T	ENSP00000495630.1:p.Leu252=
ENST00000651186.1:c.756G>T	ENSP00000498645.1:p.Leu252=
ENST00000366601.7:c.1095G>T	ENSP00000355560.3:p.Leu365=
ENST00000406207.4:c.1095G>T	ENSP00000384571.1:p.Leu365=
ENST00000472011.5:n.1147G>T
ENST00000543662.3:c.1248G>T	ENSP00000439170.1:p.Leu416=
NM_001079515.2:c.1095G>T	NP_001072983.1:p.Leu365=
NM_001287801.1:c.1248G>T	NP_001274730.1:p.Leu416=
NM_001287802.1:c.756G>T	NP_001274731.1:p.Leu252=
NM_003193.4:c.1095G>T	NP_003184.1:p.Leu365=
NM_003193.5:c.1095G>T MANE Select	NP_003184.1:p.Leu365=
NM_001079515.3:c.1095G>T	NP_001072983.1:p.Leu365=
NM_001287801.2:c.1248G>T	NP_001274730.1:p.Leu416=
NM_001287802.2:c.756G>T	NP_001274731.1:p.Leu252=