Canonical Allele Identifier: CA412197929

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50526386A>C , CM000684.2:g.50526386A>C GRCh38
NC_000022.10:g.50964815A>C , CM000684.1:g.50964815A>C GRCh37
NC_000022.9:g.49311681A>C NCBI36
NG_011860.1:g.8700T>G , LRG_727:g.8700T>G
NG_016235.1:g.5054T>G
NG_021419.1:g.23171A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000252029.8:c.1019T>G (TYMP) MANE Select ENSP00000252029.3:p.Leu340Arg
ENST00000395680.6:c.1019T>G (TYMP) ENSP00000379037.1:p.Leu340Arg
ENST00000395681.6:c.1019T>G (TYMP) ENSP00000379038.1:p.Leu340Arg
ENST00000543927.6:c.-154T>G (SCO2) ENSP00000444433.1:n.-154T>G
ENST00000650719.1:c.900T>G (TYMP) ENSP00000498276.1:p.Pro300=
ENST00000651401.1:c.503T>G (TYMP) ENSP00000499115.1:p.Leu168Arg
ENST00000652401.1:c.520T>G (TYMP)
ENST00000252029.7:c.1019T>G (TYMP) ENSP00000252029.3:p.Leu340Arg
ENST00000395678.7:c.1019T>G (TYMP) ENSP00000379036.3:p.Leu340Arg
ENST00000395680.5:c.1019T>G (TYMP) ENSP00000379037.1:p.Leu340Arg
ENST00000395681.5:c.1019T>G (TYMP) ENSP00000379038.1:p.Leu340Arg
ENST00000423348.1:c.-154T>G ENSP00000403570.1:n.-154T>G
ENST00000425169.1:c.920T>G (TYMP) ENSP00000395875.1:p.Leu307Arg
ENST00000476284.1:n.1025T>G (TYMP)
ENST00000487577.5:n.1306T>G (TYMP)
ENST00000543927.5:c.-154T>G ENSP00000444433.1:n.-154T>G
NM_001113755.2:c.1019T>G (TYMP) NP_001107227.1:p.Leu340Arg
NM_001113756.2:c.1019T>G (TYMP) NP_001107228.1:p.Leu340Arg
NM_001169109.1:c.-154T>G (SCO2) NP_001162580.1:n.-154T>G
NM_001257988.1:c.1019T>G , LRG_727t1:c.1019T>G (TYMP) NP_001244917.1:p.Leu340Arg
NM_001257989.1:c.1019T>G , LRG_727t2:c.1019T>G (TYMP) NP_001244918.1:p.Leu340Arg
NM_001953.4:c.1019T>G (TYMP) NP_001944.1:p.Leu340Arg
NM_001113755.3:c.1019T>G (TYMP) NP_001107227.1:p.Leu340Arg
NM_001113756.3:c.1019T>G (TYMP) NP_001107228.1:p.Leu340Arg
NM_001953.5:c.1019T>G (TYMP) MANE Select NP_001944.1:p.Leu340Arg
NM_001169109.2:c.-154T>G (SCO2) NP_001162580.1:n.-154T>G