Canonical Allele Identifier: CA412197803

Linked Data

dbSNP Id: rs1465566884

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50526362G>A , CM000684.2:g.50526362G>A GRCh38
NC_000022.10:g.50964791G>A , CM000684.1:g.50964791G>A GRCh37
NC_000022.9:g.49311657G>A NCBI36
NG_011860.1:g.8724C>T , LRG_727:g.8724C>T
NG_016235.1:g.5078C>T
NG_021419.1:g.23147G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000252029.8:c.1043C>T (TYMP) MANE Select ENSP00000252029.3:p.Ala348Val
ENST00000395680.6:c.1043C>T (TYMP) ENSP00000379037.1:p.Ala348Val
ENST00000395681.6:c.1043C>T (TYMP) ENSP00000379038.1:p.Ala348Val
ENST00000543927.6:c.-130C>T (SCO2) ENSP00000444433.1:n.-130C>T
ENST00000650719.1:c.924C>T (TYMP) ENSP00000498276.1:p.Gly308=
ENST00000652401.1:c.544C>T (TYMP)
ENST00000252029.7:c.1043C>T (TYMP) ENSP00000252029.3:p.Ala348Val
ENST00000395678.7:c.1043C>T (TYMP) ENSP00000379036.3:p.Ala348Val
ENST00000395680.5:c.1043C>T (TYMP) ENSP00000379037.1:p.Ala348Val
ENST00000395681.5:c.1043C>T (TYMP) ENSP00000379038.1:p.Ala348Val
ENST00000423348.1:c.-130C>T ENSP00000403570.1:n.-130C>T
ENST00000425169.1:c.944C>T (TYMP) ENSP00000395875.1:p.Ala315Val
ENST00000476284.1:n.1049C>T (TYMP)
ENST00000487577.5:n.1330C>T (TYMP)
ENST00000543927.5:c.-130C>T ENSP00000444433.1:n.-130C>T
NM_001113755.2:c.1043C>T (TYMP) NP_001107227.1:p.Ala348Val
NM_001113756.2:c.1043C>T (TYMP) NP_001107228.1:p.Ala348Val
NM_001169109.1:c.-130C>T (SCO2) NP_001162580.1:n.-130C>T
NM_001257988.1:c.1043C>T , LRG_727t1:c.1043C>T (TYMP) NP_001244917.1:p.Ala348Val
NM_001257989.1:c.1043C>T , LRG_727t2:c.1043C>T (TYMP) NP_001244918.1:p.Ala348Val
NM_001953.4:c.1043C>T (TYMP) NP_001944.1:p.Ala348Val
NM_001113755.3:c.1043C>T (TYMP) NP_001107227.1:p.Ala348Val
NM_001113756.3:c.1043C>T (TYMP) NP_001107228.1:p.Ala348Val
NM_001953.5:c.1043C>T (TYMP) MANE Select NP_001944.1:p.Ala348Val
NM_001169109.2:c.-130C>T (SCO2) NP_001162580.1:n.-130C>T