Canonical Allele Identifier: CA325560311

Linked Data

ClinVar Variation Id: 1315419
ClinVar RCV Id: RCV001774669
dbSNP Id: rs534302884

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50526015T>A , CM000684.2:g.50526015T>A GRCh38
NC_000022.10:g.50964444T>A , CM000684.1:g.50964444T>A GRCh37
NC_000022.9:g.49311310T>A NCBI36
NG_011860.1:g.9071A>T , LRG_727:g.9071A>T
NG_016235.1:g.5425A>T
NG_021419.1:g.22800T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000252029.8:c.1286A>T (TYMP) MANE Select ENSP00000252029.3:p.Gln429Leu
ENST00000395680.6:c.1286A>T (TYMP) ENSP00000379037.1:p.Gln429Leu
ENST00000395681.6:c.1301A>T (TYMP) ENSP00000379038.1:p.Gln434Leu
ENST00000543927.6:c.-14+231A>T (SCO2) ENSP00000444433.1:n.-14+231A>T
ENST00000638598.2:c.-28A>T (SCO2) ENSP00000491753.2:n.-28A>T
ENST00000651490.1:c.93-97A>T (TYMP)
ENST00000652401.1:c.787A>T (TYMP)
ENST00000252029.7:c.1286A>T (TYMP) ENSP00000252029.3:p.Gln429Leu
ENST00000395678.7:c.1286A>T (TYMP) ENSP00000379036.3:p.Gln429Leu
ENST00000395680.5:c.1286A>T (TYMP) ENSP00000379037.1:p.Gln429Leu
ENST00000395681.5:c.1301A>T (TYMP) ENSP00000379038.1:p.Gln434Leu
ENST00000423348.1:c.-14+231A>T ENSP00000403570.1:n.-14+231A>T
ENST00000425169.1:c.1187A>T (TYMP) ENSP00000395875.1:p.Gln396Leu
ENST00000439934.5:c.-28A>T ENSP00000415642.1:n.-28A>T
ENST00000476284.1:n.1396A>T (TYMP)
ENST00000487577.5:n.1573A>T (TYMP)
ENST00000535425.5:c.-28A>T ENSP00000444242.1:n.-28A>T
ENST00000543927.5:c.-14+231A>T ENSP00000444433.1:n.-14+231A>T
NM_001113755.2:c.1286A>T (TYMP) NP_001107227.1:p.Gln429Leu
NM_001113756.2:c.1286A>T (TYMP) NP_001107228.1:p.Gln429Leu
NM_001169109.1:c.-14+231A>T (SCO2) NP_001162580.1:n.-14+231A>T
NM_001169110.1:c.-28A>T (SCO2) NP_001162581.1:n.-28A>T
NM_001257988.1:c.1286A>T , LRG_727t1:c.1286A>T (TYMP) NP_001244917.1:p.Gln429Leu
NM_001257989.1:c.1301A>T , LRG_727t2:c.1301A>T (TYMP) NP_001244918.1:p.Gln434Leu
NM_001953.4:c.1286A>T (TYMP) NP_001944.1:p.Gln429Leu
NM_001113755.3:c.1286A>T (TYMP) NP_001107227.1:p.Gln429Leu
NM_001113756.3:c.1286A>T (TYMP) NP_001107228.1:p.Gln429Leu
NM_001953.5:c.1286A>T (TYMP) MANE Select NP_001944.1:p.Gln429Leu
NM_001169109.2:c.-14+231A>T (SCO2) NP_001162580.1:n.-14+231A>T