Canonical Allele Identifier: CA344945785

Gene: TBCE

Linked Data

• gnomAD v4: 1-235438898-C-G
• MyVariant Identifiers: chr1:g.235602213C>G (hg19) ; chr1:g.235438898C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.235438898C>G , CM000663.2:g.235438898C>G	GRCh38
NC_000001.10:g.235602213C>G , CM000663.1:g.235602213C>G	GRCh37
NC_000001.9:g.233668836C>G	NCBI36
NG_009230.1:g.76486C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366601.8:c.1057C>G	ENSP00000355560.4:p.Pro353Ala
ENST00000406207.5:c.1246C>G	ENSP00000384571.1:p.Pro416Ala
ENST00000472011.6:n.1970C>G
ENST00000543662.4:c.1399C>G	ENSP00000439170.1:p.Pro467Ala
ENST00000642339.1:c.*943C>G	ENSP00000495425.1:n.*943C>G
ENST00000642431.1:c.1823C>G
ENST00000642463.1:c.*1144C>G	ENSP00000495007.1:n.*1144C>G
ENST00000642503.1:c.*1020C>G	ENSP00000494334.1:n.*1020C>G
ENST00000642610.2:c.1246C>G MANE Select	ENSP00000494796.1:p.Pro416Ala
ENST00000642764.1:n.2077C>G
ENST00000643125.1:c.*261C>G	ENSP00000494102.1:n.*261C>G
ENST00000643142.1:c.*737C>G	ENSP00000494755.1:n.*737C>G
ENST00000643238.1:c.*266C>G	ENSP00000495916.1:n.*266C>G
ENST00000643410.1:c.*536C>G	ENSP00000495030.1:n.*536C>G
ENST00000643487.1:n.1933C>G
ENST00000643524.1:c.*831C>G	ENSP00000494026.1:n.*831C>G
ENST00000643615.1:c.*1116+1424C>G	ENSP00000496103.1:n.*1116+1424C>G
ENST00000643993.1:n.1382C>G
ENST00000643994.1:c.*1246C>G	ENSP00000496322.1:n.*1246C>G
ENST00000644037.1:c.*1456C>G	ENSP00000496408.1:n.*1456C>G
ENST00000644055.1:c.*1871C>G	ENSP00000496307.1:n.*1871C>G
ENST00000644126.1:n.2918C>G
ENST00000644217.1:c.1246C>G	ENSP00000494646.1:p.Pro416Ala
ENST00000644265.1:c.615C>G
ENST00000644578.1:c.1060C>G	ENSP00000495953.1:p.Pro354Ala
ENST00000644604.1:c.1246C>G	ENSP00000495961.1:p.Pro416Ala
ENST00000644680.1:c.*1767C>G	ENSP00000496173.1:n.*1767C>G
ENST00000644838.1:c.*629C>G	ENSP00000495910.1:n.*629C>G
ENST00000644910.1:c.1853C>G
ENST00000645205.1:c.1246C>G	ENSP00000495823.1:p.Pro416Ala
ENST00000645351.1:c.1246C>G	ENSP00000494319.1:p.Pro416Ala
ENST00000645551.1:c.*963C>G	ENSP00000495928.1:n.*963C>G
ENST00000645578.1:c.*1020C>G	ENSP00000496495.1:n.*1020C>G
ENST00000645582.1:c.*1076C>G	ENSP00000494980.1:n.*1076C>G
ENST00000645655.1:c.1246C>G	ENSP00000495202.1:p.Pro416Ala
ENST00000645662.1:c.*705C>G	ENSP00000495964.1:n.*705C>G
ENST00000645836.1:c.*1020C>G	ENSP00000493915.1:n.*1020C>G
ENST00000645899.1:c.1246C>G	ENSP00000496773.1:p.Pro416Ala
ENST00000645964.1:c.*1112C>G	ENSP00000494208.1:n.*1112C>G
ENST00000646104.1:c.*1714C>G	ENSP00000495475.1:n.*1714C>G
ENST00000646186.1:c.*918C>G	ENSP00000493806.1:n.*918C>G
ENST00000646286.1:c.*1139C>G	ENSP00000494291.1:n.*1139C>G
ENST00000646463.1:c.*1011C>G	ENSP00000494541.1:n.*1011C>G
ENST00000646528.1:c.*1962C>G	ENSP00000496553.1:n.*1962C>G
ENST00000646536.1:c.*536C>G	ENSP00000494801.1:n.*536C>G
ENST00000646624.1:c.1246C>G	ENSP00000494575.1:p.Pro416Ala
ENST00000646821.1:c.*536C>G	ENSP00000495257.1:n.*536C>G
ENST00000646842.1:n.690C>G
ENST00000646848.1:c.*461C>G	ENSP00000495831.1:n.*461C>G
ENST00000647186.1:c.1246C>G	ENSP00000494775.1:p.Pro416Ala
ENST00000647233.1:n.2226C>G
ENST00000647322.1:c.837C>G
ENST00000647418.1:c.*1020C>G	ENSP00000493552.1:n.*1020C>G
ENST00000647428.1:c.907C>G	ENSP00000495630.1:p.Pro303Ala
ENST00000651186.1:c.907C>G	ENSP00000498645.1:p.Pro303Ala
ENST00000366601.7:c.1246C>G	ENSP00000355560.3:p.Pro416Ala
ENST00000406207.4:c.1246C>G	ENSP00000384571.1:p.Pro416Ala
ENST00000472011.5:n.1298C>G
ENST00000543662.3:c.1399C>G	ENSP00000439170.1:p.Pro467Ala
NM_001079515.2:c.1246C>G	NP_001072983.1:p.Pro416Ala
NM_001287801.1:c.1399C>G	NP_001274730.1:p.Pro467Ala
NM_001287802.1:c.907C>G	NP_001274731.1:p.Pro303Ala
NM_003193.4:c.1246C>G	NP_003184.1:p.Pro416Ala
NM_003193.5:c.1246C>G MANE Select	NP_003184.1:p.Pro416Ala
NM_001079515.3:c.1246C>G	NP_001072983.1:p.Pro416Ala
NM_001287801.2:c.1399C>G	NP_001274730.1:p.Pro467Ala
NM_001287802.2:c.907C>G	NP_001274731.1:p.Pro303Ala