Canonical Allele Identifier: CA344945354

Gene: TBCE

Linked Data

• gnomAD v4: 1-235438857-C-G
• MyVariant Identifiers: chr1:g.235602172C>G (hg19) ; chr1:g.235438857C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.235438857C>G , CM000663.2:g.235438857C>G	GRCh38
NC_000001.10:g.235602172C>G , CM000663.1:g.235602172C>G	GRCh37
NC_000001.9:g.233668795C>G	NCBI36
NG_009230.1:g.76445C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366601.8:c.1016C>G	ENSP00000355560.4:p.Pro339Arg
ENST00000406207.5:c.1205C>G	ENSP00000384571.1:p.Pro402Arg
ENST00000472011.6:n.1929C>G
ENST00000543662.4:c.1358C>G	ENSP00000439170.1:p.Pro453Arg
ENST00000642339.1:c.*902C>G	ENSP00000495425.1:n.*902C>G
ENST00000642431.1:c.1782C>G
ENST00000642463.1:c.*1103C>G	ENSP00000495007.1:n.*1103C>G
ENST00000642503.1:c.*979C>G	ENSP00000494334.1:n.*979C>G
ENST00000642610.2:c.1205C>G MANE Select	ENSP00000494796.1:p.Pro402Arg
ENST00000642764.1:n.2036C>G
ENST00000643125.1:c.*220C>G	ENSP00000494102.1:n.*220C>G
ENST00000643142.1:c.*696C>G	ENSP00000494755.1:n.*696C>G
ENST00000643238.1:c.*225C>G	ENSP00000495916.1:n.*225C>G
ENST00000643410.1:c.*495C>G	ENSP00000495030.1:n.*495C>G
ENST00000643487.1:n.1892C>G
ENST00000643524.1:c.*790C>G	ENSP00000494026.1:n.*790C>G
ENST00000643615.1:c.*1116+1383C>G	ENSP00000496103.1:n.*1116+1383C>G
ENST00000643993.1:n.1341C>G
ENST00000643994.1:c.*1205C>G	ENSP00000496322.1:n.*1205C>G
ENST00000644037.1:c.*1415C>G	ENSP00000496408.1:n.*1415C>G
ENST00000644055.1:c.*1830C>G	ENSP00000496307.1:n.*1830C>G
ENST00000644126.1:n.2877C>G
ENST00000644217.1:c.1205C>G	ENSP00000494646.1:p.Pro402Arg
ENST00000644265.1:c.574C>G
ENST00000644578.1:c.1019C>G	ENSP00000495953.1:p.Pro340Arg
ENST00000644604.1:c.1205C>G	ENSP00000495961.1:p.Pro402Arg
ENST00000644680.1:c.*1726C>G	ENSP00000496173.1:n.*1726C>G
ENST00000644838.1:c.*588C>G	ENSP00000495910.1:n.*588C>G
ENST00000644910.1:c.1812C>G
ENST00000645205.1:c.1205C>G	ENSP00000495823.1:p.Pro402Arg
ENST00000645351.1:c.1205C>G	ENSP00000494319.1:p.Pro402Arg
ENST00000645551.1:c.*922C>G	ENSP00000495928.1:n.*922C>G
ENST00000645578.1:c.*979C>G	ENSP00000496495.1:n.*979C>G
ENST00000645582.1:c.*1035C>G	ENSP00000494980.1:n.*1035C>G
ENST00000645655.1:c.1205C>G	ENSP00000495202.1:p.Pro402Arg
ENST00000645662.1:c.*664C>G	ENSP00000495964.1:n.*664C>G
ENST00000645836.1:c.*979C>G	ENSP00000493915.1:n.*979C>G
ENST00000645899.1:c.1205C>G	ENSP00000496773.1:p.Pro402Arg
ENST00000645964.1:c.*1071C>G	ENSP00000494208.1:n.*1071C>G
ENST00000646104.1:c.*1673C>G	ENSP00000495475.1:n.*1673C>G
ENST00000646186.1:c.*877C>G	ENSP00000493806.1:n.*877C>G
ENST00000646286.1:c.*1098C>G	ENSP00000494291.1:n.*1098C>G
ENST00000646463.1:c.*970C>G	ENSP00000494541.1:n.*970C>G
ENST00000646528.1:c.*1921C>G	ENSP00000496553.1:n.*1921C>G
ENST00000646536.1:c.*495C>G	ENSP00000494801.1:n.*495C>G
ENST00000646624.1:c.1205C>G	ENSP00000494575.1:p.Pro402Arg
ENST00000646821.1:c.*495C>G	ENSP00000495257.1:n.*495C>G
ENST00000646842.1:n.649C>G
ENST00000646848.1:c.*420C>G	ENSP00000495831.1:n.*420C>G
ENST00000647186.1:c.1205C>G	ENSP00000494775.1:p.Pro402Arg
ENST00000647233.1:n.2185C>G
ENST00000647322.1:c.796C>G
ENST00000647418.1:c.*979C>G	ENSP00000493552.1:n.*979C>G
ENST00000647428.1:c.866C>G	ENSP00000495630.1:p.Pro289Arg
ENST00000651186.1:c.866C>G	ENSP00000498645.1:p.Pro289Arg
ENST00000366601.7:c.1205C>G	ENSP00000355560.3:p.Pro402Arg
ENST00000406207.4:c.1205C>G	ENSP00000384571.1:p.Pro402Arg
ENST00000472011.5:n.1257C>G
ENST00000543662.3:c.1358C>G	ENSP00000439170.1:p.Pro453Arg
NM_001079515.2:c.1205C>G	NP_001072983.1:p.Pro402Arg
NM_001287801.1:c.1358C>G	NP_001274730.1:p.Pro453Arg
NM_001287802.1:c.866C>G	NP_001274731.1:p.Pro289Arg
NM_003193.4:c.1205C>G	NP_003184.1:p.Pro402Arg
NM_003193.5:c.1205C>G MANE Select	NP_003184.1:p.Pro402Arg
NM_001079515.3:c.1205C>G	NP_001072983.1:p.Pro402Arg
NM_001287801.2:c.1358C>G	NP_001274730.1:p.Pro453Arg
NM_001287802.2:c.866C>G	NP_001274731.1:p.Pro289Arg