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: CA376858158
Gene: MYPN HGNC NCBI
MyVariant.info:
Revel Score:

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.68197371G>C , CM000672.2:g.68197371G>C GRCh38
NC_000010.10:g.69957128G>C , CM000672.1:g.69957128G>C GRCh37
NC_000010.9:g.69627134G>C NCBI36
NG_032118.1:g.96255G>C , LRG_410:g.96255G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000354393.7:c.2353G>C ENSP00000346369.2:p.Glu785Gln
ENST00000540630.6:c.3232G>C ENSP00000441668.3:p.Glu1078Gln
ENST00000613327.5:c.3178G>C ENSP00000480757.2:p.Glu1060Gln
ENST00000688812.1:c.*441G>C ENSP00000510658.1:n.*441G>C
ENST00000690544.1:c.*2449G>C ENSP00000508989.1:n.*2449G>C
ENST00000358913.10:c.3178G>C MANE Select ENSP00000351790.5:p.Glu1060Gln
ENST00000354393.6:c.2353G>C ENSP00000346369.2:p.Glu785Gln
ENST00000358913.9:c.3178G>C ENSP00000351790.5:p.Glu1060Gln
ENST00000540630.5:c.3178G>C ENSP00000441668.2:p.Glu1060Gln
ENST00000613327.4:c.2296G>C ENSP00000480757.1:p.Glu766Gln
NM_001256267.1:c.3178G>C NP_001243196.1:p.Glu1060Gln
NM_001256268.1:c.2296G>C NP_001243197.1:p.Glu766Gln
NM_032578.3:c.3178G>C , LRG_410t1:c.3178G>C NP_115967.2:p.Glu1060Gln
NR_045662.3:n.2605G>C
NR_045663.3:n.3307G>C
XM_006718043.2:c.3232G>C XP_006718106.1:p.Glu1078Gln
XM_011540292.1:c.3208G>C XP_011538594.1:p.Glu1070Gln
XM_017016833.1:c.3256G>C XP_016872322.1:p.Glu1086Gln
XM_017016834.2:c.3178G>C XP_016872323.1:p.Glu1060Gln
XM_024448236.1:c.2056G>C XP_024304004.1:p.Glu686Gln
NR_045662.4:n.2715G>C
NR_045663.4:n.3252G>C
NM_001256267.2:c.3178G>C NP_001243196.1:p.Glu1060Gln
NM_001256268.2:c.2296G>C NP_001243197.1:p.Glu766Gln
NM_032578.4:c.3178G>C MANE Select NP_115967.2:p.Glu1060Gln