Canonical Allele Identifier: CA325560331

Linked Data

dbSNP Id: rs940407207

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50526037C>T , CM000684.2:g.50526037C>T GRCh38
NC_000022.10:g.50964466C>T , CM000684.1:g.50964466C>T GRCh37
NC_000022.9:g.49311332C>T NCBI36
NG_011860.1:g.9049G>A , LRG_727:g.9049G>A
NG_016235.1:g.5403G>A
NG_021419.1:g.22822C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000252029.8:c.1264G>A (TYMP) MANE Select ENSP00000252029.3:p.Glu422Lys
ENST00000395680.6:c.1264G>A (TYMP) ENSP00000379037.1:p.Glu422Lys
ENST00000395681.6:c.1279G>A (TYMP) ENSP00000379038.1:p.Glu427Lys
ENST00000543927.6:c.-14+209G>A (SCO2) ENSP00000444433.1:n.-14+209G>A
ENST00000638598.2:c.-50G>A (SCO2) ENSP00000491753.2:n.-50G>A
ENST00000651490.1:c.93-119G>A (TYMP)
ENST00000652401.1:c.765G>A (TYMP)
ENST00000252029.7:c.1264G>A (TYMP) ENSP00000252029.3:p.Glu422Lys
ENST00000395678.7:c.1264G>A (TYMP) ENSP00000379036.3:p.Glu422Lys
ENST00000395680.5:c.1264G>A (TYMP) ENSP00000379037.1:p.Glu422Lys
ENST00000395681.5:c.1279G>A (TYMP) ENSP00000379038.1:p.Glu427Lys
ENST00000423348.1:c.-14+209G>A ENSP00000403570.1:n.-14+209G>A
ENST00000425169.1:c.1165G>A (TYMP) ENSP00000395875.1:p.Glu389Lys
ENST00000439934.5:c.-50G>A ENSP00000415642.1:n.-50G>A
ENST00000476284.1:n.1374G>A (TYMP)
ENST00000487577.5:n.1551G>A (TYMP)
ENST00000535425.5:c.-50G>A ENSP00000444242.1:n.-50G>A
ENST00000543927.5:c.-14+209G>A ENSP00000444433.1:n.-14+209G>A
NM_001113755.2:c.1264G>A (TYMP) NP_001107227.1:p.Glu422Lys
NM_001113756.2:c.1264G>A (TYMP) NP_001107228.1:p.Glu422Lys
NM_001169109.1:c.-14+209G>A (SCO2) NP_001162580.1:n.-14+209G>A
NM_001169110.1:c.-50G>A (SCO2) NP_001162581.1:n.-50G>A
NM_001257988.1:c.1264G>A , LRG_727t1:c.1264G>A (TYMP) NP_001244917.1:p.Glu422Lys
NM_001257989.1:c.1279G>A , LRG_727t2:c.1279G>A (TYMP) NP_001244918.1:p.Glu427Lys
NM_001953.4:c.1264G>A (TYMP) NP_001944.1:p.Glu422Lys
NM_001113755.3:c.1264G>A (TYMP) NP_001107227.1:p.Glu422Lys
NM_001113756.3:c.1264G>A (TYMP) NP_001107228.1:p.Glu422Lys
NM_001953.5:c.1264G>A (TYMP) MANE Select NP_001944.1:p.Glu422Lys
NM_001169109.2:c.-14+209G>A (SCO2) NP_001162580.1:n.-14+209G>A