Canonical Allele Identifier: CA1464229

Gene: TBCE

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.235436387T>C , CM000663.2:g.235436387T>C	GRCh38
NC_000001.10:g.235599702T>C , CM000663.1:g.235599702T>C	GRCh37
NC_000001.9:g.233666325T>C	NCBI36
NG_009230.1:g.73975T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_003193.5:c.835T>C MANE Select	NP_003184.1:p.Leu279=
ENST00000642610.2:c.835T>C MANE Select	ENSP00000494796.1:p.Leu279=
NM_001079515.2:c.835T>C	NP_001072983.1:p.Leu279=
NM_001079515.3:c.835T>C	NP_001072983.1:p.Leu279=
NM_001287801.1:c.988T>C	NP_001274730.1:p.Leu330=
NM_001287801.2:c.988T>C	NP_001274730.1:p.Leu330=
NM_001287802.1:c.496T>C	NP_001274731.1:p.Leu166=
NM_001287802.2:c.496T>C	NP_001274731.1:p.Leu166=
NM_003193.4:c.835T>C	NP_003184.1:p.Leu279=
ENST00000366601.7:c.835T>C	ENSP00000355560.3:p.Leu279=
ENST00000366601.8:c.646T>C	ENSP00000355560.4:p.Leu216=
ENST00000406207.4:c.835T>C	ENSP00000384571.1:p.Leu279=
ENST00000406207.5:c.835T>C	ENSP00000384571.1:p.Leu279=
ENST00000472011.5:n.887T>C
ENST00000472011.6:n.1466T>C
ENST00000543662.3:c.988T>C	ENSP00000439170.1:p.Leu330=
ENST00000543662.4:c.988T>C	ENSP00000439170.1:p.Leu330=
ENST00000642339.1:c.*532T>C	ENSP00000495425.1:n.*532T>C
ENST00000642372.1:c.542T>C
ENST00000642431.1:c.1412T>C
ENST00000642463.1:c.*733T>C	ENSP00000495007.1:n.*733T>C
ENST00000642503.1:c.*609T>C	ENSP00000494334.1:n.*609T>C
ENST00000642764.1:n.1573T>C
ENST00000642981.1:n.224T>C
ENST00000643125.1:c.738-935T>C	ENSP00000494102.1:n.738-935T>C
ENST00000643142.1:c.*326T>C	ENSP00000494755.1:n.*326T>C
ENST00000643238.1:c.638-935T>C	ENSP00000495916.1:n.638-935T>C
ENST00000643410.1:c.*125T>C	ENSP00000495030.1:n.*125T>C
ENST00000643487.1:n.1522T>C
ENST00000643524.1:c.*420T>C	ENSP00000494026.1:n.*420T>C
ENST00000643615.1:c.*835T>C	ENSP00000496103.1:n.*835T>C
ENST00000643993.1:n.878T>C
ENST00000643994.1:c.*835T>C	ENSP00000496322.1:n.*835T>C
ENST00000644037.1:c.*952T>C	ENSP00000496408.1:n.*952T>C
ENST00000644055.1:c.*1460T>C	ENSP00000496307.1:n.*1460T>C
ENST00000644126.1:n.2414T>C
ENST00000644217.1:c.835T>C	ENSP00000494646.1:p.Leu279=
ENST00000644265.1:c.333-935T>C
ENST00000644578.1:c.649T>C	ENSP00000495953.1:p.Leu217=
ENST00000644604.1:c.835T>C	ENSP00000495961.1:p.Leu279=
ENST00000644680.1:c.*1356T>C	ENSP00000496173.1:n.*1356T>C
ENST00000644838.1:c.*125T>C	ENSP00000495910.1:n.*125T>C
ENST00000644910.1:c.1349T>C
ENST00000645205.1:c.835T>C	ENSP00000495823.1:p.Leu279=
ENST00000645351.1:c.835T>C	ENSP00000494319.1:p.Leu279=
ENST00000645551.1:c.*552T>C	ENSP00000495928.1:n.*552T>C
ENST00000645578.1:c.*609T>C	ENSP00000496495.1:n.*609T>C
ENST00000645582.1:c.*665T>C	ENSP00000494980.1:n.*665T>C
ENST00000645655.1:c.835T>C	ENSP00000495202.1:p.Leu279=
ENST00000645662.1:c.*423-935T>C	ENSP00000495964.1:n.*423-935T>C
ENST00000645836.1:c.*609T>C	ENSP00000493915.1:n.*609T>C
ENST00000645899.1:c.835T>C	ENSP00000496773.1:p.Leu279=
ENST00000645964.1:c.*608T>C	ENSP00000494208.1:n.*608T>C
ENST00000646104.1:c.*1210T>C	ENSP00000495475.1:n.*1210T>C
ENST00000646186.1:c.*507T>C	ENSP00000493806.1:n.*507T>C
ENST00000646281.1:c.835T>C	ENSP00000495225.1:p.Leu279=
ENST00000646286.1:c.*728T>C	ENSP00000494291.1:n.*728T>C
ENST00000646463.1:c.*507T>C	ENSP00000494541.1:n.*507T>C
ENST00000646528.1:c.*1551T>C	ENSP00000496553.1:n.*1551T>C
ENST00000646536.1:c.*125T>C	ENSP00000494801.1:n.*125T>C
ENST00000646624.1:c.835T>C	ENSP00000494575.1:p.Leu279=
ENST00000646821.1:c.*125T>C	ENSP00000495257.1:n.*125T>C
ENST00000646842.1:n.408-935T>C
ENST00000646848.1:c.*50T>C	ENSP00000495831.1:n.*50T>C
ENST00000647186.1:c.835T>C	ENSP00000494775.1:p.Leu279=
ENST00000647233.1:n.1722T>C
ENST00000647322.1:c.555-935T>C
ENST00000647332.1:c.*320T>C	ENSP00000495024.1:n.*320T>C
ENST00000647418.1:c.*609T>C	ENSP00000493552.1:n.*609T>C
ENST00000647428.1:c.496T>C	ENSP00000495630.1:p.Leu166=
ENST00000651186.1:c.496T>C	ENSP00000498645.1:p.Leu166=