Canonical Allele Identifier: CA344944597

Gene: TBCE

Linked Data

• MyVariant Identifiers: chr1:g.235602091C>A (hg19) ; chr1:g.235438776C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.235438776C>A , CM000663.2:g.235438776C>A	GRCh38
NC_000001.10:g.235602091C>A , CM000663.1:g.235602091C>A	GRCh37
NC_000001.9:g.233668714C>A	NCBI36
NG_009230.1:g.76364C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366601.8:c.935C>A	ENSP00000355560.4:p.Pro312His
ENST00000406207.5:c.1124C>A	ENSP00000384571.1:p.Pro375His
ENST00000472011.6:n.1848C>A
ENST00000543662.4:c.1277C>A	ENSP00000439170.1:p.Pro426His
ENST00000642339.1:c.*821C>A	ENSP00000495425.1:n.*821C>A
ENST00000642431.1:c.1701C>A
ENST00000642463.1:c.*1022C>A	ENSP00000495007.1:n.*1022C>A
ENST00000642503.1:c.*898C>A	ENSP00000494334.1:n.*898C>A
ENST00000642610.2:c.1124C>A MANE Select	ENSP00000494796.1:p.Pro375His
ENST00000642764.1:n.1955C>A
ENST00000643125.1:c.*139C>A	ENSP00000494102.1:n.*139C>A
ENST00000643142.1:c.*615C>A	ENSP00000494755.1:n.*615C>A
ENST00000643238.1:c.*144C>A	ENSP00000495916.1:n.*144C>A
ENST00000643410.1:c.*414C>A	ENSP00000495030.1:n.*414C>A
ENST00000643487.1:n.1811C>A
ENST00000643524.1:c.*709C>A	ENSP00000494026.1:n.*709C>A
ENST00000643615.1:c.*1116+1302C>A	ENSP00000496103.1:n.*1116+1302C>A
ENST00000643993.1:n.1260C>A
ENST00000643994.1:c.*1124C>A	ENSP00000496322.1:n.*1124C>A
ENST00000644037.1:c.*1334C>A	ENSP00000496408.1:n.*1334C>A
ENST00000644055.1:c.*1749C>A	ENSP00000496307.1:n.*1749C>A
ENST00000644126.1:n.2796C>A
ENST00000644217.1:c.1124C>A	ENSP00000494646.1:p.Pro375His
ENST00000644265.1:c.493C>A
ENST00000644578.1:c.938C>A	ENSP00000495953.1:p.Pro313His
ENST00000644604.1:c.1124C>A	ENSP00000495961.1:p.Pro375His
ENST00000644680.1:c.*1645C>A	ENSP00000496173.1:n.*1645C>A
ENST00000644838.1:c.*507C>A	ENSP00000495910.1:n.*507C>A
ENST00000644910.1:c.1731C>A
ENST00000645205.1:c.1124C>A	ENSP00000495823.1:p.Pro375His
ENST00000645351.1:c.1124C>A	ENSP00000494319.1:p.Pro375His
ENST00000645551.1:c.*841C>A	ENSP00000495928.1:n.*841C>A
ENST00000645578.1:c.*898C>A	ENSP00000496495.1:n.*898C>A
ENST00000645582.1:c.*954C>A	ENSP00000494980.1:n.*954C>A
ENST00000645655.1:c.1124C>A	ENSP00000495202.1:p.Pro375His
ENST00000645662.1:c.*583C>A	ENSP00000495964.1:n.*583C>A
ENST00000645836.1:c.*898C>A	ENSP00000493915.1:n.*898C>A
ENST00000645899.1:c.1124C>A	ENSP00000496773.1:p.Pro375His
ENST00000645964.1:c.*990C>A	ENSP00000494208.1:n.*990C>A
ENST00000646104.1:c.*1592C>A	ENSP00000495475.1:n.*1592C>A
ENST00000646186.1:c.*796C>A	ENSP00000493806.1:n.*796C>A
ENST00000646286.1:c.*1017C>A	ENSP00000494291.1:n.*1017C>A
ENST00000646463.1:c.*889C>A	ENSP00000494541.1:n.*889C>A
ENST00000646528.1:c.*1840C>A	ENSP00000496553.1:n.*1840C>A
ENST00000646536.1:c.*414C>A	ENSP00000494801.1:n.*414C>A
ENST00000646624.1:c.1124C>A	ENSP00000494575.1:p.Pro375His
ENST00000646821.1:c.*414C>A	ENSP00000495257.1:n.*414C>A
ENST00000646842.1:n.568C>A
ENST00000646848.1:c.*339C>A	ENSP00000495831.1:n.*339C>A
ENST00000647186.1:c.1124C>A	ENSP00000494775.1:p.Pro375His
ENST00000647233.1:n.2104C>A
ENST00000647322.1:c.715C>A
ENST00000647418.1:c.*898C>A	ENSP00000493552.1:n.*898C>A
ENST00000647428.1:c.785C>A	ENSP00000495630.1:p.Pro262His
ENST00000651186.1:c.785C>A	ENSP00000498645.1:p.Pro262His
ENST00000366601.7:c.1124C>A	ENSP00000355560.3:p.Pro375His
ENST00000406207.4:c.1124C>A	ENSP00000384571.1:p.Pro375His
ENST00000472011.5:n.1176C>A
ENST00000543662.3:c.1277C>A	ENSP00000439170.1:p.Pro426His
NM_001079515.2:c.1124C>A	NP_001072983.1:p.Pro375His
NM_001287801.1:c.1277C>A	NP_001274730.1:p.Pro426His
NM_001287802.1:c.785C>A	NP_001274731.1:p.Pro262His
NM_003193.4:c.1124C>A	NP_003184.1:p.Pro375His
NM_003193.5:c.1124C>A MANE Select	NP_003184.1:p.Pro375His
NM_001079515.3:c.1124C>A	NP_001072983.1:p.Pro375His
NM_001287801.2:c.1277C>A	NP_001274730.1:p.Pro426His
NM_001287802.2:c.785C>A	NP_001274731.1:p.Pro262His