This is a test version of the ClinGen Allele Registry and hosts obsolete or unreal identifiers. Please visit here for the production version.
Canonical Allele Identifier: CA376858129
Gene: MYPN HGNC NCBI
MyVariant.info:
Revel Score:

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.68197368C>G , CM000672.2:g.68197368C>G GRCh38
NC_000010.10:g.69957125C>G , CM000672.1:g.69957125C>G GRCh37
NC_000010.9:g.69627131C>G NCBI36
NG_032118.1:g.96252C>G , LRG_410:g.96252C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000354393.7:c.2350C>G ENSP00000346369.2:p.Gln784Glu
ENST00000540630.6:c.3229C>G ENSP00000441668.3:p.Gln1077Glu
ENST00000613327.5:c.3175C>G ENSP00000480757.2:p.Gln1059Glu
ENST00000688812.1:c.*438C>G ENSP00000510658.1:n.*438C>G
ENST00000690544.1:c.*2446C>G ENSP00000508989.1:n.*2446C>G
ENST00000358913.10:c.3175C>G MANE Select ENSP00000351790.5:p.Gln1059Glu
ENST00000354393.6:c.2350C>G ENSP00000346369.2:p.Gln784Glu
ENST00000358913.9:c.3175C>G ENSP00000351790.5:p.Gln1059Glu
ENST00000540630.5:c.3175C>G ENSP00000441668.2:p.Gln1059Glu
ENST00000613327.4:c.2293C>G ENSP00000480757.1:p.Gln765Glu
NM_001256267.1:c.3175C>G NP_001243196.1:p.Gln1059Glu
NM_001256268.1:c.2293C>G NP_001243197.1:p.Gln765Glu
NM_032578.3:c.3175C>G , LRG_410t1:c.3175C>G NP_115967.2:p.Gln1059Glu
NR_045662.3:n.2602C>G
NR_045663.3:n.3304C>G
XM_006718043.2:c.3229C>G XP_006718106.1:p.Gln1077Glu
XM_011540292.1:c.3205C>G XP_011538594.1:p.Gln1069Glu
XM_017016833.1:c.3253C>G XP_016872322.1:p.Gln1085Glu
XM_017016834.2:c.3175C>G XP_016872323.1:p.Gln1059Glu
XM_024448236.1:c.2053C>G XP_024304004.1:p.Gln685Glu
NR_045662.4:n.2712C>G
NR_045663.4:n.3249C>G
NM_001256267.2:c.3175C>G NP_001243196.1:p.Gln1059Glu
NM_001256268.2:c.2293C>G NP_001243197.1:p.Gln765Glu
NM_032578.4:c.3175C>G MANE Select NP_115967.2:p.Gln1059Glu