Canonical Allele Identifier: CA412198098

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50526417C>A , CM000684.2:g.50526417C>A GRCh38
NC_000022.10:g.50964846C>A , CM000684.1:g.50964846C>A GRCh37
NC_000022.9:g.49311712C>A NCBI36
NG_011860.1:g.8669G>T , LRG_727:g.8669G>T
NG_016235.1:g.5023G>T
NG_021419.1:g.23202C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000252029.8:c.988G>T (TYMP) MANE Select ENSP00000252029.3:p.Val330Leu
ENST00000395680.6:c.988G>T (TYMP) ENSP00000379037.1:p.Val330Leu
ENST00000395681.6:c.988G>T (TYMP) ENSP00000379038.1:p.Val330Leu
ENST00000543927.6:c.-185G>T (SCO2) ENSP00000444433.1:n.-185G>T
ENST00000650719.1:c.869G>T (TYMP) ENSP00000498276.1:p.Gly290Val
ENST00000651401.1:c.472G>T (TYMP) ENSP00000499115.1:p.Val158Leu
ENST00000652401.1:c.489G>T (TYMP)
ENST00000252029.7:c.988G>T (TYMP) ENSP00000252029.3:p.Val330Leu
ENST00000395678.7:c.988G>T (TYMP) ENSP00000379036.3:p.Val330Leu
ENST00000395680.5:c.988G>T (TYMP) ENSP00000379037.1:p.Val330Leu
ENST00000395681.5:c.988G>T (TYMP) ENSP00000379038.1:p.Val330Leu
ENST00000423348.1:c.-185G>T ENSP00000403570.1:n.-185G>T
ENST00000425169.1:c.889G>T (TYMP) ENSP00000395875.1:p.Val297Leu
ENST00000476284.1:n.994G>T (TYMP)
ENST00000487577.5:n.1275G>T (TYMP)
ENST00000543927.5:c.-185G>T ENSP00000444433.1:n.-185G>T
NM_001113755.2:c.988G>T (TYMP) NP_001107227.1:p.Val330Leu
NM_001113756.2:c.988G>T (TYMP) NP_001107228.1:p.Val330Leu
NM_001169109.1:c.-185G>T (SCO2) NP_001162580.1:n.-185G>T
NM_001257988.1:c.988G>T , LRG_727t1:c.988G>T (TYMP) NP_001244917.1:p.Val330Leu
NM_001257989.1:c.988G>T , LRG_727t2:c.988G>T (TYMP) NP_001244918.1:p.Val330Leu
NM_001953.4:c.988G>T (TYMP) NP_001944.1:p.Val330Leu
NM_001113755.3:c.988G>T (TYMP) NP_001107227.1:p.Val330Leu
NM_001113756.3:c.988G>T (TYMP) NP_001107228.1:p.Val330Leu
NM_001953.5:c.988G>T (TYMP) MANE Select NP_001944.1:p.Val330Leu
NM_001169109.2:c.-185G>T (SCO2) NP_001162580.1:n.-185G>T