Canonical Allele Identifier: CA344945979

Gene: TBCE

Linked Data

• MyVariant Identifiers: chr1:g.235602228C>T (hg19) ; chr1:g.235438913C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.235438913C>T , CM000663.2:g.235438913C>T	GRCh38
NC_000001.10:g.235602228C>T , CM000663.1:g.235602228C>T	GRCh37
NC_000001.9:g.233668851C>T	NCBI36
NG_009230.1:g.76501C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366601.8:c.1072C>T	ENSP00000355560.4:p.Leu358Phe
ENST00000406207.5:c.1261C>T	ENSP00000384571.1:p.Leu421Phe
ENST00000472011.6:n.1985C>T
ENST00000543662.4:c.1414C>T	ENSP00000439170.1:p.Leu472Phe
ENST00000642339.1:c.*958C>T	ENSP00000495425.1:n.*958C>T
ENST00000642431.1:c.1838C>T
ENST00000642463.1:c.*1159C>T	ENSP00000495007.1:n.*1159C>T
ENST00000642503.1:c.*1035C>T	ENSP00000494334.1:n.*1035C>T
ENST00000642610.2:c.1261C>T MANE Select	ENSP00000494796.1:p.Leu421Phe
ENST00000642764.1:n.2092C>T
ENST00000643125.1:c.*276C>T	ENSP00000494102.1:n.*276C>T
ENST00000643142.1:c.*752C>T	ENSP00000494755.1:n.*752C>T
ENST00000643238.1:c.*281C>T	ENSP00000495916.1:n.*281C>T
ENST00000643410.1:c.*551C>T	ENSP00000495030.1:n.*551C>T
ENST00000643487.1:n.1948C>T
ENST00000643524.1:c.*846C>T	ENSP00000494026.1:n.*846C>T
ENST00000643615.1:c.*1116+1439C>T	ENSP00000496103.1:n.*1116+1439C>T
ENST00000643993.1:n.1397C>T
ENST00000643994.1:c.*1261C>T	ENSP00000496322.1:n.*1261C>T
ENST00000644037.1:c.*1471C>T	ENSP00000496408.1:n.*1471C>T
ENST00000644055.1:c.*1886C>T	ENSP00000496307.1:n.*1886C>T
ENST00000644126.1:n.2933C>T
ENST00000644217.1:c.1261C>T	ENSP00000494646.1:p.Leu421Phe
ENST00000644265.1:c.630C>T
ENST00000644578.1:c.1075C>T	ENSP00000495953.1:p.Leu359Phe
ENST00000644604.1:c.1261C>T	ENSP00000495961.1:p.Leu421Phe
ENST00000644680.1:c.*1782C>T	ENSP00000496173.1:n.*1782C>T
ENST00000644838.1:c.*644C>T	ENSP00000495910.1:n.*644C>T
ENST00000644910.1:c.1868C>T
ENST00000645205.1:c.1261C>T	ENSP00000495823.1:p.Leu421Phe
ENST00000645351.1:c.1261C>T	ENSP00000494319.1:p.Leu421Phe
ENST00000645551.1:c.*978C>T	ENSP00000495928.1:n.*978C>T
ENST00000645578.1:c.*1035C>T	ENSP00000496495.1:n.*1035C>T
ENST00000645582.1:c.*1091C>T	ENSP00000494980.1:n.*1091C>T
ENST00000645655.1:c.1261C>T	ENSP00000495202.1:p.Leu421Phe
ENST00000645836.1:c.*1035C>T	ENSP00000493915.1:n.*1035C>T
ENST00000645899.1:c.1261C>T	ENSP00000496773.1:p.Leu421Phe
ENST00000645964.1:c.*1127C>T	ENSP00000494208.1:n.*1127C>T
ENST00000646104.1:c.*1729C>T	ENSP00000495475.1:n.*1729C>T
ENST00000646186.1:c.*933C>T	ENSP00000493806.1:n.*933C>T
ENST00000646286.1:c.*1154C>T	ENSP00000494291.1:n.*1154C>T
ENST00000646463.1:c.*1026C>T	ENSP00000494541.1:n.*1026C>T
ENST00000646528.1:c.*1977C>T	ENSP00000496553.1:n.*1977C>T
ENST00000646536.1:c.*551C>T	ENSP00000494801.1:n.*551C>T
ENST00000646624.1:c.1261C>T	ENSP00000494575.1:p.Leu421Phe
ENST00000646821.1:c.*551C>T	ENSP00000495257.1:n.*551C>T
ENST00000646842.1:n.705C>T
ENST00000646848.1:c.*476C>T	ENSP00000495831.1:n.*476C>T
ENST00000647186.1:c.1261C>T	ENSP00000494775.1:p.Leu421Phe
ENST00000647233.1:n.2241C>T
ENST00000647322.1:c.852C>T
ENST00000647418.1:c.*1035C>T	ENSP00000493552.1:n.*1035C>T
ENST00000647428.1:c.922C>T	ENSP00000495630.1:p.Leu308Phe
ENST00000651186.1:c.922C>T	ENSP00000498645.1:p.Leu308Phe
ENST00000366601.7:c.1261C>T	ENSP00000355560.3:p.Leu421Phe
ENST00000406207.4:c.1261C>T	ENSP00000384571.1:p.Leu421Phe
ENST00000472011.5:n.1313C>T
ENST00000543662.3:c.1414C>T	ENSP00000439170.1:p.Leu472Phe
NM_001079515.2:c.1261C>T	NP_001072983.1:p.Leu421Phe
NM_001287801.1:c.1414C>T	NP_001274730.1:p.Leu472Phe
NM_001287802.1:c.922C>T	NP_001274731.1:p.Leu308Phe
NM_003193.4:c.1261C>T	NP_003184.1:p.Leu421Phe
NM_003193.5:c.1261C>T MANE Select	NP_003184.1:p.Leu421Phe
NM_001079515.3:c.1261C>T	NP_001072983.1:p.Leu421Phe
NM_001287801.2:c.1414C>T	NP_001274730.1:p.Leu472Phe
NM_001287802.2:c.922C>T	NP_001274731.1:p.Leu308Phe