Canonical Allele Identifier: CA344945308

Gene: TBCE

Linked Data

• gnomAD v4: 1-235438853-G-A
• MyVariant Identifiers: chr1:g.235602168G>A (hg19) ; chr1:g.235438853G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.235438853G>A , CM000663.2:g.235438853G>A	GRCh38
NC_000001.10:g.235602168G>A , CM000663.1:g.235602168G>A	GRCh37
NC_000001.9:g.233668791G>A	NCBI36
NG_009230.1:g.76441G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366601.8:c.1012G>A	ENSP00000355560.4:p.Asp338Asn
ENST00000406207.5:c.1201G>A	ENSP00000384571.1:p.Asp401Asn
ENST00000472011.6:n.1925G>A
ENST00000543662.4:c.1354G>A	ENSP00000439170.1:p.Asp452Asn
ENST00000642339.1:c.*898G>A	ENSP00000495425.1:n.*898G>A
ENST00000642431.1:c.1778G>A
ENST00000642463.1:c.*1099G>A	ENSP00000495007.1:n.*1099G>A
ENST00000642503.1:c.*975G>A	ENSP00000494334.1:n.*975G>A
ENST00000642610.2:c.1201G>A MANE Select	ENSP00000494796.1:p.Asp401Asn
ENST00000642764.1:n.2032G>A
ENST00000643125.1:c.*216G>A	ENSP00000494102.1:n.*216G>A
ENST00000643142.1:c.*692G>A	ENSP00000494755.1:n.*692G>A
ENST00000643238.1:c.*221G>A	ENSP00000495916.1:n.*221G>A
ENST00000643410.1:c.*491G>A	ENSP00000495030.1:n.*491G>A
ENST00000643487.1:n.1888G>A
ENST00000643524.1:c.*786G>A	ENSP00000494026.1:n.*786G>A
ENST00000643615.1:c.*1116+1379G>A	ENSP00000496103.1:n.*1116+1379G>A
ENST00000643993.1:n.1337G>A
ENST00000643994.1:c.*1201G>A	ENSP00000496322.1:n.*1201G>A
ENST00000644037.1:c.*1411G>A	ENSP00000496408.1:n.*1411G>A
ENST00000644055.1:c.*1826G>A	ENSP00000496307.1:n.*1826G>A
ENST00000644126.1:n.2873G>A
ENST00000644217.1:c.1201G>A	ENSP00000494646.1:p.Asp401Asn
ENST00000644265.1:c.570G>A
ENST00000644578.1:c.1015G>A	ENSP00000495953.1:p.Asp339Asn
ENST00000644604.1:c.1201G>A	ENSP00000495961.1:p.Asp401Asn
ENST00000644680.1:c.*1722G>A	ENSP00000496173.1:n.*1722G>A
ENST00000644838.1:c.*584G>A	ENSP00000495910.1:n.*584G>A
ENST00000644910.1:c.1808G>A
ENST00000645205.1:c.1201G>A	ENSP00000495823.1:p.Asp401Asn
ENST00000645351.1:c.1201G>A	ENSP00000494319.1:p.Asp401Asn
ENST00000645551.1:c.*918G>A	ENSP00000495928.1:n.*918G>A
ENST00000645578.1:c.*975G>A	ENSP00000496495.1:n.*975G>A
ENST00000645582.1:c.*1031G>A	ENSP00000494980.1:n.*1031G>A
ENST00000645655.1:c.1201G>A	ENSP00000495202.1:p.Asp401Asn
ENST00000645662.1:c.*660G>A	ENSP00000495964.1:n.*660G>A
ENST00000645836.1:c.*975G>A	ENSP00000493915.1:n.*975G>A
ENST00000645899.1:c.1201G>A	ENSP00000496773.1:p.Asp401Asn
ENST00000645964.1:c.*1067G>A	ENSP00000494208.1:n.*1067G>A
ENST00000646104.1:c.*1669G>A	ENSP00000495475.1:n.*1669G>A
ENST00000646186.1:c.*873G>A	ENSP00000493806.1:n.*873G>A
ENST00000646286.1:c.*1094G>A	ENSP00000494291.1:n.*1094G>A
ENST00000646463.1:c.*966G>A	ENSP00000494541.1:n.*966G>A
ENST00000646528.1:c.*1917G>A	ENSP00000496553.1:n.*1917G>A
ENST00000646536.1:c.*491G>A	ENSP00000494801.1:n.*491G>A
ENST00000646624.1:c.1201G>A	ENSP00000494575.1:p.Asp401Asn
ENST00000646821.1:c.*491G>A	ENSP00000495257.1:n.*491G>A
ENST00000646842.1:n.645G>A
ENST00000646848.1:c.*416G>A	ENSP00000495831.1:n.*416G>A
ENST00000647186.1:c.1201G>A	ENSP00000494775.1:p.Asp401Asn
ENST00000647233.1:n.2181G>A
ENST00000647322.1:c.792G>A
ENST00000647418.1:c.*975G>A	ENSP00000493552.1:n.*975G>A
ENST00000647428.1:c.862G>A	ENSP00000495630.1:p.Asp288Asn
ENST00000651186.1:c.862G>A	ENSP00000498645.1:p.Asp288Asn
ENST00000366601.7:c.1201G>A	ENSP00000355560.3:p.Asp401Asn
ENST00000406207.4:c.1201G>A	ENSP00000384571.1:p.Asp401Asn
ENST00000472011.5:n.1253G>A
ENST00000543662.3:c.1354G>A	ENSP00000439170.1:p.Asp452Asn
NM_001079515.2:c.1201G>A	NP_001072983.1:p.Asp401Asn
NM_001287801.1:c.1354G>A	NP_001274730.1:p.Asp452Asn
NM_001287802.1:c.862G>A	NP_001274731.1:p.Asp288Asn
NM_003193.4:c.1201G>A	NP_003184.1:p.Asp401Asn
NM_003193.5:c.1201G>A MANE Select	NP_003184.1:p.Asp401Asn
NM_001079515.3:c.1201G>A	NP_001072983.1:p.Asp401Asn
NM_001287801.2:c.1354G>A	NP_001274730.1:p.Asp452Asn
NM_001287802.2:c.862G>A	NP_001274731.1:p.Asp288Asn