Canonical Allele Identifier: CA376859277
Community Standard Title: NM_032578.4(MYPN):c.3416G>C (p.Arg1139Pro)
Gene: MYPN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.68199498G>C , CM000672.2:g.68199498G>C GRCh38
NC_000010.10:g.69959255G>C , CM000672.1:g.69959255G>C GRCh37
NC_000010.9:g.69629261G>C NCBI36
NG_032118.1:g.98382G>C , LRG_410:g.98382G>C

Transcript Alleles

HGVS Amino-acid Change
NM_032578.4:c.3416G>C MANE Select NP_115967.2:p.Arg1139Pro
ENST00000358913.10:c.3416G>C MANE Select ENSP00000351790.5:p.Arg1139Pro
NM_001256267.1:c.3416G>C NP_001243196.1:p.Arg1139Pro
NM_001256267.2:c.3416G>C NP_001243196.1:p.Arg1139Pro
NM_001256268.1:c.2534G>C NP_001243197.1:p.Arg845Pro
NM_001256268.2:c.2534G>C NP_001243197.1:p.Arg845Pro
NM_032578.3:c.3416G>C , LRG_410t1:c.3416G>C NP_115967.2:p.Arg1139Pro
NR_045662.3:n.2843G>C
NR_045662.4:n.2953G>C
NR_045663.3:n.3545G>C
NR_045663.4:n.3490G>C
ENST00000354393.6:c.2591G>C ENSP00000346369.2:p.Arg864Pro
ENST00000354393.7:c.2591G>C ENSP00000346369.2:p.Arg864Pro
ENST00000358913.9:c.3416G>C ENSP00000351790.5:p.Arg1139Pro
ENST00000540630.5:c.3416G>C ENSP00000441668.2:p.Arg1139Pro
ENST00000540630.6:c.3470G>C ENSP00000441668.3:p.Arg1157Pro
ENST00000613327.4:c.2534G>C ENSP00000480757.1:p.Arg845Pro
ENST00000613327.5:c.3416G>C ENSP00000480757.2:p.Arg1139Pro
ENST00000688812.1:c.*679G>C ENSP00000510658.1:n.*679G>C
ENST00000690544.1:c.*2687G>C ENSP00000508989.1:n.*2687G>C
XM_006718043.2:c.3470G>C XP_006718106.1:p.Arg1157Pro
XM_011540292.1:c.3446G>C XP_011538594.1:p.Arg1149Pro
XM_017016833.1:c.3494G>C XP_016872322.1:p.Arg1165Pro
XM_017016834.2:c.3416G>C XP_016872323.1:p.Arg1139Pro
XM_024448236.1:c.2294G>C XP_024304004.1:p.Arg765Pro
XR_946029.1:n.1804-223C>G