Canonical Allele Identifier: CA344944753

Gene: TBCE

Linked Data

• gnomAD v4: 1-235438792-A-T
• MyVariant Identifiers: chr1:g.235602107A>T (hg19) ; chr1:g.235438792A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.235438792A>T , CM000663.2:g.235438792A>T	GRCh38
NC_000001.10:g.235602107A>T , CM000663.1:g.235602107A>T	GRCh37
NC_000001.9:g.233668730A>T	NCBI36
NG_009230.1:g.76380A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366601.8:c.951A>T	ENSP00000355560.4:p.Arg317Ser
ENST00000406207.5:c.1140A>T	ENSP00000384571.1:p.Arg380Ser
ENST00000472011.6:n.1864A>T
ENST00000543662.4:c.1293A>T	ENSP00000439170.1:p.Arg431Ser
ENST00000642339.1:c.*837A>T	ENSP00000495425.1:n.*837A>T
ENST00000642431.1:c.1717A>T
ENST00000642463.1:c.*1038A>T	ENSP00000495007.1:n.*1038A>T
ENST00000642503.1:c.*914A>T	ENSP00000494334.1:n.*914A>T
ENST00000642610.2:c.1140A>T MANE Select	ENSP00000494796.1:p.Arg380Ser
ENST00000642764.1:n.1971A>T
ENST00000643125.1:c.*155A>T	ENSP00000494102.1:n.*155A>T
ENST00000643142.1:c.*631A>T	ENSP00000494755.1:n.*631A>T
ENST00000643238.1:c.*160A>T	ENSP00000495916.1:n.*160A>T
ENST00000643410.1:c.*430A>T	ENSP00000495030.1:n.*430A>T
ENST00000643487.1:n.1827A>T
ENST00000643524.1:c.*725A>T	ENSP00000494026.1:n.*725A>T
ENST00000643615.1:c.*1116+1318A>T	ENSP00000496103.1:n.*1116+1318A>T
ENST00000643993.1:n.1276A>T
ENST00000643994.1:c.*1140A>T	ENSP00000496322.1:n.*1140A>T
ENST00000644037.1:c.*1350A>T	ENSP00000496408.1:n.*1350A>T
ENST00000644055.1:c.*1765A>T	ENSP00000496307.1:n.*1765A>T
ENST00000644126.1:n.2812A>T
ENST00000644217.1:c.1140A>T	ENSP00000494646.1:p.Arg380Ser
ENST00000644265.1:c.509A>T
ENST00000644578.1:c.954A>T	ENSP00000495953.1:p.Arg318Ser
ENST00000644604.1:c.1140A>T	ENSP00000495961.1:p.Arg380Ser
ENST00000644680.1:c.*1661A>T	ENSP00000496173.1:n.*1661A>T
ENST00000644838.1:c.*523A>T	ENSP00000495910.1:n.*523A>T
ENST00000644910.1:c.1747A>T
ENST00000645205.1:c.1140A>T	ENSP00000495823.1:p.Arg380Ser
ENST00000645351.1:c.1140A>T	ENSP00000494319.1:p.Arg380Ser
ENST00000645551.1:c.*857A>T	ENSP00000495928.1:n.*857A>T
ENST00000645578.1:c.*914A>T	ENSP00000496495.1:n.*914A>T
ENST00000645582.1:c.*970A>T	ENSP00000494980.1:n.*970A>T
ENST00000645655.1:c.1140A>T	ENSP00000495202.1:p.Arg380Ser
ENST00000645662.1:c.*599A>T	ENSP00000495964.1:n.*599A>T
ENST00000645836.1:c.*914A>T	ENSP00000493915.1:n.*914A>T
ENST00000645899.1:c.1140A>T	ENSP00000496773.1:p.Arg380Ser
ENST00000645964.1:c.*1006A>T	ENSP00000494208.1:n.*1006A>T
ENST00000646104.1:c.*1608A>T	ENSP00000495475.1:n.*1608A>T
ENST00000646186.1:c.*812A>T	ENSP00000493806.1:n.*812A>T
ENST00000646286.1:c.*1033A>T	ENSP00000494291.1:n.*1033A>T
ENST00000646463.1:c.*905A>T	ENSP00000494541.1:n.*905A>T
ENST00000646528.1:c.*1856A>T	ENSP00000496553.1:n.*1856A>T
ENST00000646536.1:c.*430A>T	ENSP00000494801.1:n.*430A>T
ENST00000646624.1:c.1140A>T	ENSP00000494575.1:p.Arg380Ser
ENST00000646821.1:c.*430A>T	ENSP00000495257.1:n.*430A>T
ENST00000646842.1:n.584A>T
ENST00000646848.1:c.*355A>T	ENSP00000495831.1:n.*355A>T
ENST00000647186.1:c.1140A>T	ENSP00000494775.1:p.Arg380Ser
ENST00000647233.1:n.2120A>T
ENST00000647322.1:c.731A>T
ENST00000647418.1:c.*914A>T	ENSP00000493552.1:n.*914A>T
ENST00000647428.1:c.801A>T	ENSP00000495630.1:p.Arg267Ser
ENST00000651186.1:c.801A>T	ENSP00000498645.1:p.Arg267Ser
ENST00000366601.7:c.1140A>T	ENSP00000355560.3:p.Arg380Ser
ENST00000406207.4:c.1140A>T	ENSP00000384571.1:p.Arg380Ser
ENST00000472011.5:n.1192A>T
ENST00000543662.3:c.1293A>T	ENSP00000439170.1:p.Arg431Ser
NM_001079515.2:c.1140A>T	NP_001072983.1:p.Arg380Ser
NM_001287801.1:c.1293A>T	NP_001274730.1:p.Arg431Ser
NM_001287802.1:c.801A>T	NP_001274731.1:p.Arg267Ser
NM_003193.4:c.1140A>T	NP_003184.1:p.Arg380Ser
NM_003193.5:c.1140A>T MANE Select	NP_003184.1:p.Arg380Ser
NM_001079515.3:c.1140A>T	NP_001072983.1:p.Arg380Ser
NM_001287801.2:c.1293A>T	NP_001274730.1:p.Arg431Ser
NM_001287802.2:c.801A>T	NP_001274731.1:p.Arg267Ser