Canonical Allele Identifier: CA39587755

Gene: TBCE

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.235436734A>C , CM000663.2:g.235436734A>C	GRCh38
NC_000001.10:g.235600049A>C , CM000663.1:g.235600049A>C	GRCh37
NC_000001.9:g.233666672A>C	NCBI36
NG_009230.1:g.74322A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_003193.5:c.963+126A>C MANE Select	NP_003184.1:n.963+126A>C
ENST00000642610.2:c.963+126A>C MANE Select	ENSP00000494796.1:n.963+126A>C
NM_001079515.2:c.963+126A>C	NP_001072983.1:n.963+126A>C
NM_001079515.3:c.963+126A>C	NP_001072983.1:n.963+126A>C
NM_001287801.1:c.1116+126A>C	NP_001274730.1:n.1116+126A>C
NM_001287801.2:c.1116+126A>C	NP_001274730.1:n.1116+126A>C
NM_001287802.1:c.624+126A>C	NP_001274731.1:n.624+126A>C
NM_001287802.2:c.624+126A>C	NP_001274731.1:n.624+126A>C
NM_003193.4:c.963+126A>C	NP_003184.1:n.963+126A>C
ENST00000366601.7:c.963+126A>C	ENSP00000355560.3:n.963+126A>C
ENST00000366601.8:c.774+126A>C	ENSP00000355560.4:n.774+126A>C
ENST00000406207.4:c.963+126A>C	ENSP00000384571.1:n.963+126A>C
ENST00000406207.5:c.963+126A>C	ENSP00000384571.1:n.963+126A>C
ENST00000472011.5:n.1015+126A>C
ENST00000472011.6:n.1687+126A>C
ENST00000543662.3:c.1116+126A>C	ENSP00000439170.1:n.1116+126A>C
ENST00000543662.4:c.1116+126A>C	ENSP00000439170.1:n.1116+126A>C
ENST00000642339.1:c.*660+126A>C	ENSP00000495425.1:n.*660+126A>C
ENST00000642431.1:c.1540+126A>C
ENST00000642463.1:c.*861+126A>C	ENSP00000495007.1:n.*861+126A>C
ENST00000642503.1:c.*737+126A>C	ENSP00000494334.1:n.*737+126A>C
ENST00000642764.1:n.1794+126A>C
ENST00000643125.1:c.738-588A>C	ENSP00000494102.1:n.738-588A>C
ENST00000643142.1:c.*454+126A>C	ENSP00000494755.1:n.*454+126A>C
ENST00000643238.1:c.638-588A>C	ENSP00000495916.1:n.638-588A>C
ENST00000643410.1:c.*253+126A>C	ENSP00000495030.1:n.*253+126A>C
ENST00000643487.1:n.1650+126A>C
ENST00000643524.1:c.*548+126A>C	ENSP00000494026.1:n.*548+126A>C
ENST00000643615.1:c.*963+126A>C	ENSP00000496103.1:n.*963+126A>C
ENST00000643993.1:n.1099+126A>C
ENST00000643994.1:c.*963+126A>C	ENSP00000496322.1:n.*963+126A>C
ENST00000644037.1:c.*1173+126A>C	ENSP00000496408.1:n.*1173+126A>C
ENST00000644055.1:c.*1588+126A>C	ENSP00000496307.1:n.*1588+126A>C
ENST00000644126.1:n.2635+126A>C
ENST00000644217.1:c.963+126A>C	ENSP00000494646.1:n.963+126A>C
ENST00000644265.1:c.333-588A>C
ENST00000644578.1:c.777+126A>C	ENSP00000495953.1:n.777+126A>C
ENST00000644604.1:c.963+126A>C	ENSP00000495961.1:n.963+126A>C
ENST00000644680.1:c.*1484+126A>C	ENSP00000496173.1:n.*1484+126A>C
ENST00000644838.1:c.*346+126A>C	ENSP00000495910.1:n.*346+126A>C
ENST00000644910.1:c.1570+126A>C
ENST00000645205.1:c.963+126A>C	ENSP00000495823.1:n.963+126A>C
ENST00000645351.1:c.963+126A>C	ENSP00000494319.1:n.963+126A>C
ENST00000645551.1:c.*680+126A>C	ENSP00000495928.1:n.*680+126A>C
ENST00000645578.1:c.*737+126A>C	ENSP00000496495.1:n.*737+126A>C
ENST00000645582.1:c.*793+126A>C	ENSP00000494980.1:n.*793+126A>C
ENST00000645655.1:c.963+126A>C	ENSP00000495202.1:n.963+126A>C
ENST00000645662.1:c.*423-588A>C	ENSP00000495964.1:n.*423-588A>C
ENST00000645836.1:c.*737+126A>C	ENSP00000493915.1:n.*737+126A>C
ENST00000645899.1:c.963+126A>C	ENSP00000496773.1:n.963+126A>C
ENST00000645964.1:c.*829+126A>C	ENSP00000494208.1:n.*829+126A>C
ENST00000646104.1:c.*1431+126A>C	ENSP00000495475.1:n.*1431+126A>C
ENST00000646186.1:c.*635+126A>C	ENSP00000493806.1:n.*635+126A>C
ENST00000646281.1:c.963+126A>C	ENSP00000495225.1:n.963+126A>C
ENST00000646286.1:c.*856+126A>C	ENSP00000494291.1:n.*856+126A>C
ENST00000646463.1:c.*728+126A>C	ENSP00000494541.1:n.*728+126A>C
ENST00000646528.1:c.*1679+126A>C	ENSP00000496553.1:n.*1679+126A>C
ENST00000646536.1:c.*253+126A>C	ENSP00000494801.1:n.*253+126A>C
ENST00000646624.1:c.963+126A>C	ENSP00000494575.1:n.963+126A>C
ENST00000646821.1:c.*253+126A>C	ENSP00000495257.1:n.*253+126A>C
ENST00000646842.1:n.408-588A>C
ENST00000646848.1:c.*178+126A>C	ENSP00000495831.1:n.*178+126A>C
ENST00000647186.1:c.963+126A>C	ENSP00000494775.1:n.963+126A>C
ENST00000647233.1:n.1943+126A>C
ENST00000647322.1:c.555-588A>C
ENST00000647332.1:c.*448+126A>C	ENSP00000495024.1:n.*448+126A>C
ENST00000647418.1:c.*737+126A>C	ENSP00000493552.1:n.*737+126A>C
ENST00000647428.1:c.624+126A>C	ENSP00000495630.1:n.624+126A>C
ENST00000651186.1:c.624+126A>C	ENSP00000498645.1:n.624+126A>C