Canonical Allele Identifier: CA2410907382

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50525780G= , CM000684.2:g.50525780G= GRCh38
NC_000022.10:g.50964209G= , CM000684.1:g.50964209G= GRCh37
NC_000022.9:g.49311075G= NCBI36
NG_011860.1:g.9306C= , LRG_727:g.9306C=
NG_016235.1:g.5660C=
NG_021419.1:g.22565G=

Transcript Alleles

HGVS Amino-acid change
ENST00000252029.8:c.1439C= (TYMP) MANE Select ENSP00000252029.3:p.Pro480=
ENST00000395680.6:c.1439C= (TYMP) ENSP00000379037.1:p.Pro480=
ENST00000395681.6:c.1454C= (TYMP) ENSP00000379038.1:p.Pro485=
ENST00000543927.6:c.-14+466C= (SCO2) ENSP00000444433.1:n.-14+466C=
ENST00000638598.2:c.-14+221C= (SCO2) ENSP00000491753.2:n.-14+221C=
ENST00000651490.1:c.231C= (TYMP)
ENST00000252029.7:c.1439C= (TYMP) ENSP00000252029.3:p.Pro480=
ENST00000395678.7:c.1439C= (TYMP) ENSP00000379036.3:p.Pro480=
ENST00000395680.5:c.1439C= (TYMP) ENSP00000379037.1:p.Pro480=
ENST00000395681.5:c.1454C= (TYMP) ENSP00000379038.1:p.Pro485=
ENST00000423348.1:c.-14+466C= ENSP00000403570.1:n.-14+466C=
ENST00000439934.5:c.-14+221C= ENSP00000415642.1:n.-14+221C=
ENST00000476284.1:n.1549C= (TYMP)
ENST00000487577.5:n.1726C= (TYMP)
ENST00000535425.5:c.-14+221C= ENSP00000444242.1:n.-14+221C=
ENST00000543927.5:c.-14+466C= ENSP00000444433.1:n.-14+466C=
NM_001113755.2:c.1439C= (TYMP) NP_001107227.1:p.Pro480=
NM_001113756.2:c.1439C= (TYMP) NP_001107228.1:p.Pro480=
NM_001169109.1:c.-14+466C= (SCO2) NP_001162580.1:n.-14+466C=
NM_001169110.1:c.-14+221C= (SCO2) NP_001162581.1:n.-14+221C=
NM_001257988.1:c.1439C= , LRG_727t1:c.1439C= (TYMP) NP_001244917.1:p.Pro480=
NM_001257989.1:c.1454C= , LRG_727t2:c.1454C= (TYMP) NP_001244918.1:p.Pro485=
NM_001953.4:c.1439C= (TYMP) NP_001944.1:p.Pro480=
NM_001113755.3:c.1439C= (TYMP) NP_001107227.1:p.Pro480=
NM_001113756.3:c.1439C= (TYMP) NP_001107228.1:p.Pro480=
NM_001953.5:c.1439C= (TYMP) MANE Select NP_001944.1:p.Pro480=
NM_001169109.2:c.-14+466C= (SCO2) NP_001162580.1:n.-14+466C=