Canonical Allele Identifier: CA376859322
Community Standard Title: NM_032578.4(MYPN):c.3437G>C (p.Cys1146Ser)
Gene: MYPN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.68199519G>C , CM000672.2:g.68199519G>C GRCh38
NC_000010.10:g.69959276G>C , CM000672.1:g.69959276G>C GRCh37
NC_000010.9:g.69629282G>C NCBI36
NG_032118.1:g.98403G>C , LRG_410:g.98403G>C

Transcript Alleles

HGVS Amino-acid Change
NM_032578.4:c.3437G>C MANE Select NP_115967.2:p.Cys1146Ser
ENST00000358913.10:c.3437G>C MANE Select ENSP00000351790.5:p.Cys1146Ser
NM_001256267.1:c.3437G>C NP_001243196.1:p.Cys1146Ser
NM_001256267.2:c.3437G>C NP_001243196.1:p.Cys1146Ser
NM_001256268.1:c.2555G>C NP_001243197.1:p.Cys852Ser
NM_001256268.2:c.2555G>C NP_001243197.1:p.Cys852Ser
NM_032578.3:c.3437G>C , LRG_410t1:c.3437G>C NP_115967.2:p.Cys1146Ser
NR_045662.3:n.2864G>C
NR_045662.4:n.2974G>C
NR_045663.3:n.3566G>C
NR_045663.4:n.3511G>C
ENST00000354393.6:c.2612G>C ENSP00000346369.2:p.Cys871Ser
ENST00000354393.7:c.2612G>C ENSP00000346369.2:p.Cys871Ser
ENST00000358913.9:c.3437G>C ENSP00000351790.5:p.Cys1146Ser
ENST00000540630.5:c.3437G>C ENSP00000441668.2:p.Cys1146Ser
ENST00000540630.6:c.3491G>C ENSP00000441668.3:p.Cys1164Ser
ENST00000613327.4:c.2555G>C ENSP00000480757.1:p.Cys852Ser
ENST00000613327.5:c.3437G>C ENSP00000480757.2:p.Cys1146Ser
ENST00000688812.1:c.*700G>C ENSP00000510658.1:n.*700G>C
ENST00000690544.1:c.*2708G>C ENSP00000508989.1:n.*2708G>C
XM_006718043.2:c.3491G>C XP_006718106.1:p.Cys1164Ser
XM_011540292.1:c.3467G>C XP_011538594.1:p.Cys1156Ser
XM_017016833.1:c.3515G>C XP_016872322.1:p.Cys1172Ser
XM_017016834.2:c.3437G>C XP_016872323.1:p.Cys1146Ser
XM_024448236.1:c.2315G>C XP_024304004.1:p.Cys772Ser
XR_946029.1:n.1804-244C>G