Canonical Allele Identifier: CA344942889

Gene: TBCE

Linked Data

• gnomAD v4: 1-235437446-G-A
• MyVariant Identifiers: chr1:g.235600761G>A (hg19) ; chr1:g.235437446G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.235437446G>A , CM000663.2:g.235437446G>A	GRCh38
NC_000001.10:g.235600761G>A , CM000663.1:g.235600761G>A	GRCh37
NC_000001.9:g.233667384G>A	NCBI36
NG_009230.1:g.75034G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366601.8:c.899G>A	ENSP00000355560.4:p.Gly300Asp
ENST00000406207.5:c.1088G>A	ENSP00000384571.1:p.Gly363Asp
ENST00000472011.6:n.1812G>A
ENST00000543662.4:c.1241G>A	ENSP00000439170.1:p.Gly414Asp
ENST00000642339.1:c.*785G>A	ENSP00000495425.1:n.*785G>A
ENST00000642431.1:c.1665G>A
ENST00000642463.1:c.*986G>A	ENSP00000495007.1:n.*986G>A
ENST00000642503.1:c.*862G>A	ENSP00000494334.1:n.*862G>A
ENST00000642610.2:c.1088G>A MANE Select	ENSP00000494796.1:p.Gly363Asp
ENST00000642764.1:n.1919G>A
ENST00000643125.1:c.*103G>A	ENSP00000494102.1:n.*103G>A
ENST00000643142.1:c.*579G>A	ENSP00000494755.1:n.*579G>A
ENST00000643238.1:c.*108G>A	ENSP00000495916.1:n.*108G>A
ENST00000643410.1:c.*378G>A	ENSP00000495030.1:n.*378G>A
ENST00000643487.1:n.1775G>A
ENST00000643524.1:c.*673G>A	ENSP00000494026.1:n.*673G>A
ENST00000643615.1:c.*1088G>A	ENSP00000496103.1:n.*1088G>A
ENST00000643993.1:n.1224G>A
ENST00000643994.1:c.*1088G>A	ENSP00000496322.1:n.*1088G>A
ENST00000644037.1:c.*1298G>A	ENSP00000496408.1:n.*1298G>A
ENST00000644055.1:c.*1713G>A	ENSP00000496307.1:n.*1713G>A
ENST00000644126.1:n.2760G>A
ENST00000644217.1:c.1088G>A	ENSP00000494646.1:p.Gly363Asp
ENST00000644265.1:c.457G>A
ENST00000644578.1:c.902G>A	ENSP00000495953.1:p.Gly301Asp
ENST00000644604.1:c.1088G>A	ENSP00000495961.1:p.Gly363Asp
ENST00000644680.1:c.*1609G>A	ENSP00000496173.1:n.*1609G>A
ENST00000644838.1:c.*471G>A	ENSP00000495910.1:n.*471G>A
ENST00000644910.1:c.1695G>A
ENST00000645205.1:c.1088G>A	ENSP00000495823.1:p.Gly363Asp
ENST00000645351.1:c.1088G>A	ENSP00000494319.1:p.Gly363Asp
ENST00000645551.1:c.*805G>A	ENSP00000495928.1:n.*805G>A
ENST00000645578.1:c.*862G>A	ENSP00000496495.1:n.*862G>A
ENST00000645582.1:c.*918G>A	ENSP00000494980.1:n.*918G>A
ENST00000645655.1:c.1088G>A	ENSP00000495202.1:p.Gly363Asp
ENST00000645662.1:c.*547G>A	ENSP00000495964.1:n.*547G>A
ENST00000645836.1:c.*862G>A	ENSP00000493915.1:n.*862G>A
ENST00000645899.1:c.1088G>A	ENSP00000496773.1:p.Gly363Asp
ENST00000645964.1:c.*954G>A	ENSP00000494208.1:n.*954G>A
ENST00000646104.1:c.*1556G>A	ENSP00000495475.1:n.*1556G>A
ENST00000646186.1:c.*760G>A	ENSP00000493806.1:n.*760G>A
ENST00000646281.1:c.1088G>A	ENSP00000495225.1:p.Gly363Asp
ENST00000646286.1:c.*981G>A	ENSP00000494291.1:n.*981G>A
ENST00000646463.1:c.*853G>A	ENSP00000494541.1:n.*853G>A
ENST00000646528.1:c.*1804G>A	ENSP00000496553.1:n.*1804G>A
ENST00000646536.1:c.*378G>A	ENSP00000494801.1:n.*378G>A
ENST00000646624.1:c.1088G>A	ENSP00000494575.1:p.Gly363Asp
ENST00000646821.1:c.*378G>A	ENSP00000495257.1:n.*378G>A
ENST00000646842.1:n.532G>A
ENST00000646848.1:c.*303G>A	ENSP00000495831.1:n.*303G>A
ENST00000647186.1:c.1088G>A	ENSP00000494775.1:p.Gly363Asp
ENST00000647233.1:n.2068G>A
ENST00000647322.1:c.679G>A
ENST00000647418.1:c.*862G>A	ENSP00000493552.1:n.*862G>A
ENST00000647428.1:c.749G>A	ENSP00000495630.1:p.Gly250Asp
ENST00000651186.1:c.749G>A	ENSP00000498645.1:p.Gly250Asp
ENST00000366601.7:c.1088G>A	ENSP00000355560.3:p.Gly363Asp
ENST00000406207.4:c.1088G>A	ENSP00000384571.1:p.Gly363Asp
ENST00000472011.5:n.1140G>A
ENST00000543662.3:c.1241G>A	ENSP00000439170.1:p.Gly414Asp
NM_001079515.2:c.1088G>A	NP_001072983.1:p.Gly363Asp
NM_001287801.1:c.1241G>A	NP_001274730.1:p.Gly414Asp
NM_001287802.1:c.749G>A	NP_001274731.1:p.Gly250Asp
NM_003193.4:c.1088G>A	NP_003184.1:p.Gly363Asp
NM_003193.5:c.1088G>A MANE Select	NP_003184.1:p.Gly363Asp
NM_001079515.3:c.1088G>A	NP_001072983.1:p.Gly363Asp
NM_001287801.2:c.1241G>A	NP_001274730.1:p.Gly414Asp
NM_001287802.2:c.749G>A	NP_001274731.1:p.Gly250Asp