Canonical Allele Identifier: CA1463972

Gene: TBCE

Linked Data

• ClinVar Variation Id: 286377
• ClinVar RCV Id: RCV000354837 ; RCV000358245 ; RCV000974002
• dbSNP Id: rs62620041
• ExAC: 1:235577776 C / T
• gnomAD v2: 1-235577776-C-T
• gnomAD v3: 1-235414461-C-T
• gnomAD v4: 1-235414461-C-T
• MyVariant Identifiers: chr1:g.235577776C>T (hg19) ; chr1:g.235414461C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.235414461C>T , CM000663.2:g.235414461C>T	GRCh38
NC_000001.10:g.235577776C>T , CM000663.1:g.235577776C>T	GRCh37
NC_000001.9:g.233644399C>T	NCBI36
NG_009230.1:g.52049C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366601.8:c.214C>T	ENSP00000355560.4:p.Pro72Ser
ENST00000406207.5:c.214C>T	ENSP00000384571.1:p.Pro72Ser
ENST00000472011.6:n.300C>T
ENST00000543662.4:c.214C>T	ENSP00000439170.1:p.Pro72Ser
ENST00000642339.1:c.129C>T	ENSP00000495425.1:p.Val43=
ENST00000642372.1:c.210C>T
ENST00000642431.1:c.791C>T
ENST00000642463.1:c.214C>T	ENSP00000495007.1:p.Pro72Ser
ENST00000642503.1:c.129C>T	ENSP00000494334.1:p.Val43=
ENST00000642610.2:c.214C>T MANE Select	ENSP00000494796.1:p.Pro72Ser
ENST00000642926.1:n.245C>T
ENST00000643125.1:c.214C>T	ENSP00000494102.1:p.Pro72Ser
ENST00000643142.1:c.214C>T	ENSP00000494755.1:p.Pro72Ser
ENST00000643238.1:c.214C>T	ENSP00000495916.1:p.Pro72Ser
ENST00000643410.1:c.214C>T	ENSP00000495030.1:p.Pro72Ser
ENST00000643418.1:c.129C>T	ENSP00000495711.1:p.Val43=
ENST00000643524.1:c.129C>T	ENSP00000494026.1:p.Val43=
ENST00000643615.1:c.129C>T	ENSP00000496103.1:p.Val43=
ENST00000643993.1:n.257C>T
ENST00000643994.1:c.129C>T	ENSP00000496322.1:p.Val43=
ENST00000644037.1:c.214C>T	ENSP00000496408.1:p.Pro72Ser
ENST00000644055.1:c.*613C>T	ENSP00000496307.1:n.*613C>T
ENST00000644217.1:c.214C>T	ENSP00000494646.1:p.Pro72Ser
ENST00000644265.1:c.98C>T
ENST00000644578.1:c.186-5012C>T	ENSP00000495953.1:n.186-5012C>T
ENST00000644604.1:c.214C>T	ENSP00000495961.1:p.Pro72Ser
ENST00000644625.1:n.320C>T
ENST00000644680.1:c.*735C>T	ENSP00000496173.1:n.*735C>T
ENST00000644838.1:c.214C>T	ENSP00000495910.1:p.Pro72Ser
ENST00000645069.1:c.129C>T	ENSP00000496644.1:p.Val43=
ENST00000645205.1:c.214C>T	ENSP00000495823.1:p.Pro72Ser
ENST00000645351.1:c.214C>T	ENSP00000494319.1:p.Pro72Ser
ENST00000645372.1:c.101-12679C>T	ENSP00000496612.1:n.101-12679C>T
ENST00000645551.1:c.214C>T	ENSP00000495928.1:p.Pro72Ser
ENST00000645578.1:c.129C>T	ENSP00000496495.1:p.Val43=
ENST00000645582.1:c.129C>T	ENSP00000494980.1:p.Val43=
ENST00000645655.1:c.214C>T	ENSP00000495202.1:p.Pro72Ser
ENST00000645662.1:c.129C>T	ENSP00000495964.1:p.Val43=
ENST00000645836.1:c.129C>T	ENSP00000493915.1:p.Val43=
ENST00000645899.1:c.214C>T	ENSP00000496773.1:p.Pro72Ser
ENST00000645964.1:c.214C>T	ENSP00000494208.1:p.Pro72Ser
ENST00000646104.1:c.129C>T	ENSP00000495475.1:p.Val43=
ENST00000646186.1:c.214C>T	ENSP00000493806.1:p.Pro72Ser
ENST00000646281.1:c.214C>T	ENSP00000495225.1:p.Pro72Ser
ENST00000646286.1:c.*107C>T	ENSP00000494291.1:n.*107C>T
ENST00000646384.1:n.368C>T
ENST00000646463.1:c.214C>T	ENSP00000494541.1:p.Pro72Ser
ENST00000646528.1:c.*648C>T	ENSP00000496553.1:n.*648C>T
ENST00000646536.1:c.214C>T	ENSP00000494801.1:p.Pro72Ser
ENST00000646624.1:c.214C>T	ENSP00000494575.1:p.Pro72Ser
ENST00000646821.1:c.214C>T	ENSP00000495257.1:p.Pro72Ser
ENST00000646848.1:c.214C>T	ENSP00000495831.1:p.Pro72Ser
ENST00000646929.1:c.106C>T
ENST00000647186.1:c.214C>T	ENSP00000494775.1:p.Pro72Ser
ENST00000647233.1:n.330C>T
ENST00000647332.1:c.129C>T	ENSP00000495024.1:p.Val43=
ENST00000647407.1:c.129C>T	ENSP00000495319.1:p.Val43=
ENST00000647418.1:c.129C>T	ENSP00000493552.1:p.Val43=
ENST00000647428.1:c.-182C>T	ENSP00000495630.1:n.-182C>T
ENST00000647489.1:c.129C>T	ENSP00000494232.1:p.Val43=
ENST00000651186.1:c.-182C>T	ENSP00000498645.1:n.-182C>T
ENST00000366601.7:c.214C>T	ENSP00000355560.3:p.Pro72Ser
ENST00000406207.4:c.214C>T	ENSP00000384571.1:p.Pro72Ser
ENST00000472011.5:n.210C>T
ENST00000482230.5:n.373C>T
ENST00000543662.3:c.214C>T	ENSP00000439170.1:p.Pro72Ser
NM_001079515.2:c.214C>T	NP_001072983.1:p.Pro72Ser
NM_001287801.1:c.214C>T	NP_001274730.1:p.Pro72Ser
NM_001287802.1:c.-182C>T	NP_001274731.1:n.-182C>T
NM_003193.4:c.214C>T	NP_003184.1:p.Pro72Ser
NM_003193.5:c.214C>T MANE Select	NP_003184.1:p.Pro72Ser
NM_001079515.3:c.214C>T	NP_001072983.1:p.Pro72Ser
NM_001287801.2:c.214C>T	NP_001274730.1:p.Pro72Ser
NM_001287802.2:c.-182C>T	NP_001274731.1:n.-182C>T