Canonical Allele Identifier: CA344942816

Gene: TBCE

Linked Data

• MyVariant Identifiers: chr1:g.235600754A>C (hg19) ; chr1:g.235437439A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.235437439A>C , CM000663.2:g.235437439A>C	GRCh38
NC_000001.10:g.235600754A>C , CM000663.1:g.235600754A>C	GRCh37
NC_000001.9:g.233667377A>C	NCBI36
NG_009230.1:g.75027A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366601.8:c.892A>C	ENSP00000355560.4:p.Ser298Arg
ENST00000406207.5:c.1081A>C	ENSP00000384571.1:p.Ser361Arg
ENST00000472011.6:n.1805A>C
ENST00000543662.4:c.1234A>C	ENSP00000439170.1:p.Ser412Arg
ENST00000642339.1:c.*778A>C	ENSP00000495425.1:n.*778A>C
ENST00000642431.1:c.1658A>C
ENST00000642463.1:c.*979A>C	ENSP00000495007.1:n.*979A>C
ENST00000642503.1:c.*855A>C	ENSP00000494334.1:n.*855A>C
ENST00000642610.2:c.1081A>C MANE Select	ENSP00000494796.1:p.Ser361Arg
ENST00000642764.1:n.1912A>C
ENST00000643125.1:c.*96A>C	ENSP00000494102.1:n.*96A>C
ENST00000643142.1:c.*572A>C	ENSP00000494755.1:n.*572A>C
ENST00000643238.1:c.*101A>C	ENSP00000495916.1:n.*101A>C
ENST00000643410.1:c.*371A>C	ENSP00000495030.1:n.*371A>C
ENST00000643487.1:n.1768A>C
ENST00000643524.1:c.*666A>C	ENSP00000494026.1:n.*666A>C
ENST00000643615.1:c.*1081A>C	ENSP00000496103.1:n.*1081A>C
ENST00000643993.1:n.1217A>C
ENST00000643994.1:c.*1081A>C	ENSP00000496322.1:n.*1081A>C
ENST00000644037.1:c.*1291A>C	ENSP00000496408.1:n.*1291A>C
ENST00000644055.1:c.*1706A>C	ENSP00000496307.1:n.*1706A>C
ENST00000644126.1:n.2753A>C
ENST00000644217.1:c.1081A>C	ENSP00000494646.1:p.Ser361Arg
ENST00000644265.1:c.450A>C
ENST00000644578.1:c.895A>C	ENSP00000495953.1:p.Ser299Arg
ENST00000644604.1:c.1081A>C	ENSP00000495961.1:p.Ser361Arg
ENST00000644680.1:c.*1602A>C	ENSP00000496173.1:n.*1602A>C
ENST00000644838.1:c.*464A>C	ENSP00000495910.1:n.*464A>C
ENST00000644910.1:c.1688A>C
ENST00000645205.1:c.1081A>C	ENSP00000495823.1:p.Ser361Arg
ENST00000645351.1:c.1081A>C	ENSP00000494319.1:p.Ser361Arg
ENST00000645551.1:c.*798A>C	ENSP00000495928.1:n.*798A>C
ENST00000645578.1:c.*855A>C	ENSP00000496495.1:n.*855A>C
ENST00000645582.1:c.*911A>C	ENSP00000494980.1:n.*911A>C
ENST00000645655.1:c.1081A>C	ENSP00000495202.1:p.Ser361Arg
ENST00000645662.1:c.*540A>C	ENSP00000495964.1:n.*540A>C
ENST00000645836.1:c.*855A>C	ENSP00000493915.1:n.*855A>C
ENST00000645899.1:c.1081A>C	ENSP00000496773.1:p.Ser361Arg
ENST00000645964.1:c.*947A>C	ENSP00000494208.1:n.*947A>C
ENST00000646104.1:c.*1549A>C	ENSP00000495475.1:n.*1549A>C
ENST00000646186.1:c.*753A>C	ENSP00000493806.1:n.*753A>C
ENST00000646281.1:c.1081A>C	ENSP00000495225.1:p.Ser361Arg
ENST00000646286.1:c.*974A>C	ENSP00000494291.1:n.*974A>C
ENST00000646463.1:c.*846A>C	ENSP00000494541.1:n.*846A>C
ENST00000646528.1:c.*1797A>C	ENSP00000496553.1:n.*1797A>C
ENST00000646536.1:c.*371A>C	ENSP00000494801.1:n.*371A>C
ENST00000646624.1:c.1081A>C	ENSP00000494575.1:p.Ser361Arg
ENST00000646821.1:c.*371A>C	ENSP00000495257.1:n.*371A>C
ENST00000646842.1:n.525A>C
ENST00000646848.1:c.*296A>C	ENSP00000495831.1:n.*296A>C
ENST00000647186.1:c.1081A>C	ENSP00000494775.1:p.Ser361Arg
ENST00000647233.1:n.2061A>C
ENST00000647322.1:c.672A>C
ENST00000647418.1:c.*855A>C	ENSP00000493552.1:n.*855A>C
ENST00000647428.1:c.742A>C	ENSP00000495630.1:p.Ser248Arg
ENST00000651186.1:c.742A>C	ENSP00000498645.1:p.Ser248Arg
ENST00000366601.7:c.1081A>C	ENSP00000355560.3:p.Ser361Arg
ENST00000406207.4:c.1081A>C	ENSP00000384571.1:p.Ser361Arg
ENST00000472011.5:n.1133A>C
ENST00000543662.3:c.1234A>C	ENSP00000439170.1:p.Ser412Arg
NM_001079515.2:c.1081A>C	NP_001072983.1:p.Ser361Arg
NM_001287801.1:c.1234A>C	NP_001274730.1:p.Ser412Arg
NM_001287802.1:c.742A>C	NP_001274731.1:p.Ser248Arg
NM_003193.4:c.1081A>C	NP_003184.1:p.Ser361Arg
NM_003193.5:c.1081A>C MANE Select	NP_003184.1:p.Ser361Arg
NM_001079515.3:c.1081A>C	NP_001072983.1:p.Ser361Arg
NM_001287801.2:c.1234A>C	NP_001274730.1:p.Ser412Arg
NM_001287802.2:c.742A>C	NP_001274731.1:p.Ser248Arg