Canonical Allele Identifier: CA344946064

Gene: TBCE

Linked Data

• MyVariant Identifiers: chr1:g.235602237A>T (hg19) ; chr1:g.235438922A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.235438922A>T , CM000663.2:g.235438922A>T	GRCh38
NC_000001.10:g.235602237A>T , CM000663.1:g.235602237A>T	GRCh37
NC_000001.9:g.233668860A>T	NCBI36
NG_009230.1:g.76510A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366601.8:c.1081A>T	ENSP00000355560.4:p.Lys361Ter
ENST00000406207.5:c.1270A>T	ENSP00000384571.1:p.Lys424Ter
ENST00000472011.6:n.1994A>T
ENST00000543662.4:c.1423A>T	ENSP00000439170.1:p.Lys475Ter
ENST00000642339.1:c.*967A>T	ENSP00000495425.1:n.*967A>T
ENST00000642431.1:c.1847A>T
ENST00000642463.1:c.*1168A>T	ENSP00000495007.1:n.*1168A>T
ENST00000642503.1:c.*1044A>T	ENSP00000494334.1:n.*1044A>T
ENST00000642610.2:c.1270A>T MANE Select	ENSP00000494796.1:p.Lys424Ter
ENST00000642764.1:n.2101A>T
ENST00000643125.1:c.*285A>T	ENSP00000494102.1:n.*285A>T
ENST00000643142.1:c.*761A>T	ENSP00000494755.1:n.*761A>T
ENST00000643238.1:c.*290A>T	ENSP00000495916.1:n.*290A>T
ENST00000643410.1:c.*560A>T	ENSP00000495030.1:n.*560A>T
ENST00000643487.1:n.1957A>T
ENST00000643524.1:c.*855A>T	ENSP00000494026.1:n.*855A>T
ENST00000643615.1:c.*1116+1448A>T	ENSP00000496103.1:n.*1116+1448A>T
ENST00000643993.1:n.1406A>T
ENST00000643994.1:c.*1270A>T	ENSP00000496322.1:n.*1270A>T
ENST00000644037.1:c.*1480A>T	ENSP00000496408.1:n.*1480A>T
ENST00000644055.1:c.*1895A>T	ENSP00000496307.1:n.*1895A>T
ENST00000644126.1:n.2942A>T
ENST00000644217.1:c.1270A>T	ENSP00000494646.1:p.Ser424Cys
ENST00000644265.1:c.639A>T
ENST00000644578.1:c.1084A>T	ENSP00000495953.1:p.Ser362Cys
ENST00000644604.1:c.1270A>T	ENSP00000495961.1:p.Lys424Ter
ENST00000644680.1:c.*1791A>T	ENSP00000496173.1:n.*1791A>T
ENST00000644838.1:c.*653A>T	ENSP00000495910.1:n.*653A>T
ENST00000644910.1:c.1877A>T
ENST00000645205.1:c.1270A>T	ENSP00000495823.1:p.Lys424Ter
ENST00000645351.1:c.1270A>T	ENSP00000494319.1:p.Lys424Ter
ENST00000645551.1:c.*987A>T	ENSP00000495928.1:n.*987A>T
ENST00000645578.1:c.*1044A>T	ENSP00000496495.1:n.*1044A>T
ENST00000645582.1:c.*1100A>T	ENSP00000494980.1:n.*1100A>T
ENST00000645655.1:c.1270A>T	ENSP00000495202.1:p.Lys424Ter
ENST00000645836.1:c.*1044A>T	ENSP00000493915.1:n.*1044A>T
ENST00000645899.1:c.1270A>T	ENSP00000496773.1:p.Lys424Ter
ENST00000645964.1:c.*1136A>T	ENSP00000494208.1:n.*1136A>T
ENST00000646104.1:c.*1738A>T	ENSP00000495475.1:n.*1738A>T
ENST00000646186.1:c.*942A>T	ENSP00000493806.1:n.*942A>T
ENST00000646286.1:c.*1163A>T	ENSP00000494291.1:n.*1163A>T
ENST00000646463.1:c.*1035A>T	ENSP00000494541.1:n.*1035A>T
ENST00000646528.1:c.*1986A>T	ENSP00000496553.1:n.*1986A>T
ENST00000646536.1:c.*560A>T	ENSP00000494801.1:n.*560A>T
ENST00000646624.1:c.1270A>T	ENSP00000494575.1:p.Lys424Ter
ENST00000646821.1:c.*560A>T	ENSP00000495257.1:n.*560A>T
ENST00000646842.1:n.714A>T
ENST00000646848.1:c.*485A>T	ENSP00000495831.1:n.*485A>T
ENST00000647186.1:c.1270A>T	ENSP00000494775.1:p.Lys424Ter
ENST00000647233.1:n.2250A>T
ENST00000647322.1:c.861A>T
ENST00000647418.1:c.*1044A>T	ENSP00000493552.1:n.*1044A>T
ENST00000647428.1:c.931A>T	ENSP00000495630.1:p.Lys311Ter
ENST00000651186.1:c.931A>T	ENSP00000498645.1:p.Lys311Ter
ENST00000366601.7:c.1270A>T	ENSP00000355560.3:p.Lys424Ter
ENST00000406207.4:c.1270A>T	ENSP00000384571.1:p.Lys424Ter
ENST00000472011.5:n.1322A>T
ENST00000543662.3:c.1423A>T	ENSP00000439170.1:p.Lys475Ter
NM_001079515.2:c.1270A>T	NP_001072983.1:p.Lys424Ter
NM_001287801.1:c.1423A>T	NP_001274730.1:p.Lys475Ter
NM_001287802.1:c.931A>T	NP_001274731.1:p.Lys311Ter
NM_003193.4:c.1270A>T	NP_003184.1:p.Lys424Ter
NM_003193.5:c.1270A>T MANE Select	NP_003184.1:p.Lys424Ter
NM_001079515.3:c.1270A>T	NP_001072983.1:p.Lys424Ter
NM_001287801.2:c.1423A>T	NP_001274730.1:p.Lys475Ter
NM_001287802.2:c.931A>T	NP_001274731.1:p.Lys311Ter