Canonical Allele Identifier: CA412197948

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50526389G>T , CM000684.2:g.50526389G>T GRCh38
NC_000022.10:g.50964818G>T , CM000684.1:g.50964818G>T GRCh37
NC_000022.9:g.49311684G>T NCBI36
NG_011860.1:g.8697C>A , LRG_727:g.8697C>A
NG_016235.1:g.5051C>A
NG_021419.1:g.23174G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000252029.8:c.1016C>A (TYMP) MANE Select ENSP00000252029.3:p.Ala339Asp
ENST00000395680.6:c.1016C>A (TYMP) ENSP00000379037.1:p.Ala339Asp
ENST00000395681.6:c.1016C>A (TYMP) ENSP00000379038.1:p.Ala339Asp
ENST00000543927.6:c.-157C>A (SCO2) ENSP00000444433.1:n.-157C>A
ENST00000650719.1:c.897C>A (TYMP) ENSP00000498276.1:p.Gly299=
ENST00000651401.1:c.500C>A (TYMP) ENSP00000499115.1:p.Ala167Asp
ENST00000652401.1:c.517C>A (TYMP)
ENST00000252029.7:c.1016C>A (TYMP) ENSP00000252029.3:p.Ala339Asp
ENST00000395678.7:c.1016C>A (TYMP) ENSP00000379036.3:p.Ala339Asp
ENST00000395680.5:c.1016C>A (TYMP) ENSP00000379037.1:p.Ala339Asp
ENST00000395681.5:c.1016C>A (TYMP) ENSP00000379038.1:p.Ala339Asp
ENST00000423348.1:c.-157C>A ENSP00000403570.1:n.-157C>A
ENST00000425169.1:c.917C>A (TYMP) ENSP00000395875.1:p.Ala306Asp
ENST00000476284.1:n.1022C>A (TYMP)
ENST00000487577.5:n.1303C>A (TYMP)
ENST00000543927.5:c.-157C>A ENSP00000444433.1:n.-157C>A
NM_001113755.2:c.1016C>A (TYMP) NP_001107227.1:p.Ala339Asp
NM_001113756.2:c.1016C>A (TYMP) NP_001107228.1:p.Ala339Asp
NM_001169109.1:c.-157C>A (SCO2) NP_001162580.1:n.-157C>A
NM_001257988.1:c.1016C>A , LRG_727t1:c.1016C>A (TYMP) NP_001244917.1:p.Ala339Asp
NM_001257989.1:c.1016C>A , LRG_727t2:c.1016C>A (TYMP) NP_001244918.1:p.Ala339Asp
NM_001953.4:c.1016C>A (TYMP) NP_001944.1:p.Ala339Asp
NM_001113755.3:c.1016C>A (TYMP) NP_001107227.1:p.Ala339Asp
NM_001113756.3:c.1016C>A (TYMP) NP_001107228.1:p.Ala339Asp
NM_001953.5:c.1016C>A (TYMP) MANE Select NP_001944.1:p.Ala339Asp
NM_001169109.2:c.-157C>A (SCO2) NP_001162580.1:n.-157C>A