Canonical Allele Identifier: CA344944624

Gene: TBCE

Linked Data

• gnomAD v4: 1-235438779-A-G
• MyVariant Identifiers: chr1:g.235602094A>G (hg19) ; chr1:g.235438779A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.235438779A>G , CM000663.2:g.235438779A>G	GRCh38
NC_000001.10:g.235602094A>G , CM000663.1:g.235602094A>G	GRCh37
NC_000001.9:g.233668717A>G	NCBI36
NG_009230.1:g.76367A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366601.8:c.938A>G	ENSP00000355560.4:p.Glu313Gly
ENST00000406207.5:c.1127A>G	ENSP00000384571.1:p.Glu376Gly
ENST00000472011.6:n.1851A>G
ENST00000543662.4:c.1280A>G	ENSP00000439170.1:p.Glu427Gly
ENST00000642339.1:c.*824A>G	ENSP00000495425.1:n.*824A>G
ENST00000642431.1:c.1704A>G
ENST00000642463.1:c.*1025A>G	ENSP00000495007.1:n.*1025A>G
ENST00000642503.1:c.*901A>G	ENSP00000494334.1:n.*901A>G
ENST00000642610.2:c.1127A>G MANE Select	ENSP00000494796.1:p.Glu376Gly
ENST00000642764.1:n.1958A>G
ENST00000643125.1:c.*142A>G	ENSP00000494102.1:n.*142A>G
ENST00000643142.1:c.*618A>G	ENSP00000494755.1:n.*618A>G
ENST00000643238.1:c.*147A>G	ENSP00000495916.1:n.*147A>G
ENST00000643410.1:c.*417A>G	ENSP00000495030.1:n.*417A>G
ENST00000643487.1:n.1814A>G
ENST00000643524.1:c.*712A>G	ENSP00000494026.1:n.*712A>G
ENST00000643615.1:c.*1116+1305A>G	ENSP00000496103.1:n.*1116+1305A>G
ENST00000643993.1:n.1263A>G
ENST00000643994.1:c.*1127A>G	ENSP00000496322.1:n.*1127A>G
ENST00000644037.1:c.*1337A>G	ENSP00000496408.1:n.*1337A>G
ENST00000644055.1:c.*1752A>G	ENSP00000496307.1:n.*1752A>G
ENST00000644126.1:n.2799A>G
ENST00000644217.1:c.1127A>G	ENSP00000494646.1:p.Glu376Gly
ENST00000644265.1:c.496A>G
ENST00000644578.1:c.941A>G	ENSP00000495953.1:p.Glu314Gly
ENST00000644604.1:c.1127A>G	ENSP00000495961.1:p.Glu376Gly
ENST00000644680.1:c.*1648A>G	ENSP00000496173.1:n.*1648A>G
ENST00000644838.1:c.*510A>G	ENSP00000495910.1:n.*510A>G
ENST00000644910.1:c.1734A>G
ENST00000645205.1:c.1127A>G	ENSP00000495823.1:p.Glu376Gly
ENST00000645351.1:c.1127A>G	ENSP00000494319.1:p.Glu376Gly
ENST00000645551.1:c.*844A>G	ENSP00000495928.1:n.*844A>G
ENST00000645578.1:c.*901A>G	ENSP00000496495.1:n.*901A>G
ENST00000645582.1:c.*957A>G	ENSP00000494980.1:n.*957A>G
ENST00000645655.1:c.1127A>G	ENSP00000495202.1:p.Glu376Gly
ENST00000645662.1:c.*586A>G	ENSP00000495964.1:n.*586A>G
ENST00000645836.1:c.*901A>G	ENSP00000493915.1:n.*901A>G
ENST00000645899.1:c.1127A>G	ENSP00000496773.1:p.Glu376Gly
ENST00000645964.1:c.*993A>G	ENSP00000494208.1:n.*993A>G
ENST00000646104.1:c.*1595A>G	ENSP00000495475.1:n.*1595A>G
ENST00000646186.1:c.*799A>G	ENSP00000493806.1:n.*799A>G
ENST00000646286.1:c.*1020A>G	ENSP00000494291.1:n.*1020A>G
ENST00000646463.1:c.*892A>G	ENSP00000494541.1:n.*892A>G
ENST00000646528.1:c.*1843A>G	ENSP00000496553.1:n.*1843A>G
ENST00000646536.1:c.*417A>G	ENSP00000494801.1:n.*417A>G
ENST00000646624.1:c.1127A>G	ENSP00000494575.1:p.Glu376Gly
ENST00000646821.1:c.*417A>G	ENSP00000495257.1:n.*417A>G
ENST00000646842.1:n.571A>G
ENST00000646848.1:c.*342A>G	ENSP00000495831.1:n.*342A>G
ENST00000647186.1:c.1127A>G	ENSP00000494775.1:p.Glu376Gly
ENST00000647233.1:n.2107A>G
ENST00000647322.1:c.718A>G
ENST00000647418.1:c.*901A>G	ENSP00000493552.1:n.*901A>G
ENST00000647428.1:c.788A>G	ENSP00000495630.1:p.Glu263Gly
ENST00000651186.1:c.788A>G	ENSP00000498645.1:p.Glu263Gly
ENST00000366601.7:c.1127A>G	ENSP00000355560.3:p.Glu376Gly
ENST00000406207.4:c.1127A>G	ENSP00000384571.1:p.Glu376Gly
ENST00000472011.5:n.1179A>G
ENST00000543662.3:c.1280A>G	ENSP00000439170.1:p.Glu427Gly
NM_001079515.2:c.1127A>G	NP_001072983.1:p.Glu376Gly
NM_001287801.1:c.1280A>G	NP_001274730.1:p.Glu427Gly
NM_001287802.1:c.788A>G	NP_001274731.1:p.Glu263Gly
NM_003193.4:c.1127A>G	NP_003184.1:p.Glu376Gly
NM_003193.5:c.1127A>G MANE Select	NP_003184.1:p.Glu376Gly
NM_001079515.3:c.1127A>G	NP_001072983.1:p.Glu376Gly
NM_001287801.2:c.1280A>G	NP_001274730.1:p.Glu427Gly
NM_001287802.2:c.788A>G	NP_001274731.1:p.Glu263Gly