Canonical Allele Identifier: CA2410907384

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50525782C= , CM000684.2:g.50525782C= GRCh38
NC_000022.10:g.50964211C= , CM000684.1:g.50964211C= GRCh37
NC_000022.9:g.49311077C= NCBI36
NG_011860.1:g.9304G= , LRG_727:g.9304G=
NG_016235.1:g.5658G=
NG_021419.1:g.22567C=

Transcript Alleles

HGVS Amino-acid change
ENST00000252029.8:c.1437G= (TYMP) MANE Select ENSP00000252029.3:p.Pro479=
ENST00000395680.6:c.1437G= (TYMP) ENSP00000379037.1:p.Pro479=
ENST00000395681.6:c.1452G= (TYMP) ENSP00000379038.1:p.Pro484=
ENST00000543927.6:c.-14+464G= (SCO2) ENSP00000444433.1:n.-14+464G=
ENST00000638598.2:c.-14+219G= (SCO2) ENSP00000491753.2:n.-14+219G=
ENST00000651490.1:c.229G= (TYMP)
ENST00000252029.7:c.1437G= (TYMP) ENSP00000252029.3:p.Pro479=
ENST00000395678.7:c.1437G= (TYMP) ENSP00000379036.3:p.Pro479=
ENST00000395680.5:c.1437G= (TYMP) ENSP00000379037.1:p.Pro479=
ENST00000395681.5:c.1452G= (TYMP) ENSP00000379038.1:p.Pro484=
ENST00000423348.1:c.-14+464G= ENSP00000403570.1:n.-14+464G=
ENST00000439934.5:c.-14+219G= ENSP00000415642.1:n.-14+219G=
ENST00000476284.1:n.1547G= (TYMP)
ENST00000487577.5:n.1724G= (TYMP)
ENST00000535425.5:c.-14+219G= ENSP00000444242.1:n.-14+219G=
ENST00000543927.5:c.-14+464G= ENSP00000444433.1:n.-14+464G=
NM_001113755.2:c.1437G= (TYMP) NP_001107227.1:p.Pro479=
NM_001113756.2:c.1437G= (TYMP) NP_001107228.1:p.Pro479=
NM_001169109.1:c.-14+464G= (SCO2) NP_001162580.1:n.-14+464G=
NM_001169110.1:c.-14+219G= (SCO2) NP_001162581.1:n.-14+219G=
NM_001257988.1:c.1437G= , LRG_727t1:c.1437G= (TYMP) NP_001244917.1:p.Pro479=
NM_001257989.1:c.1452G= , LRG_727t2:c.1452G= (TYMP) NP_001244918.1:p.Pro484=
NM_001953.4:c.1437G= (TYMP) NP_001944.1:p.Pro479=
NM_001113755.3:c.1437G= (TYMP) NP_001107227.1:p.Pro479=
NM_001113756.3:c.1437G= (TYMP) NP_001107228.1:p.Pro479=
NM_001953.5:c.1437G= (TYMP) MANE Select NP_001944.1:p.Pro479=
NM_001169109.2:c.-14+464G= (SCO2) NP_001162580.1:n.-14+464G=