Canonical Allele Identifier: CA5522249
Community Standard Title: NM_032578.4(MYPN):c.281C>G (p.Thr94Ser)
Gene: MYPN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.68121719C>G , CM000672.2:g.68121719C>G GRCh38
NC_000010.10:g.69881476C>G , CM000672.1:g.69881476C>G GRCh37
NC_000010.9:g.69551482C>G NCBI36
NG_032118.1:g.20603C>G , LRG_410:g.20603C>G

Transcript Alleles

HGVS Amino-acid Change
NM_032578.4:c.281C>G MANE Select NP_115967.2:p.Thr94Ser
ENST00000358913.10:c.281C>G MANE Select ENSP00000351790.5:p.Thr94Ser
NM_001256267.1:c.281C>G NP_001243196.1:p.Thr94Ser
NM_001256267.2:c.281C>G NP_001243196.1:p.Thr94Ser
NM_001256268.1:c.-842C>G NP_001243197.1:n.-842C>G
NM_001256268.2:c.-842C>G NP_001243197.1:n.-842C>G
NM_032578.3:c.281C>G , LRG_410t1:c.281C>G NP_115967.2:p.Thr94Ser
NR_045662.3:n.329+14918C>G
NR_045662.4:n.439+14918C>G
NR_045663.3:n.573C>G
NR_045663.4:n.518C>G
ENST00000354393.6:c.77+14918C>G ENSP00000346369.2:n.77+14918C>G
ENST00000354393.7:c.77+14918C>G ENSP00000346369.2:n.77+14918C>G
ENST00000358913.9:c.281C>G ENSP00000351790.5:p.Thr94Ser
ENST00000373675.3:c.281C>G ENSP00000362779.3:p.Thr94Ser
ENST00000373675.4:c.281C>G ENSP00000362779.4:p.Thr94Ser
ENST00000540630.5:c.281C>G ENSP00000441668.2:p.Thr94Ser
ENST00000540630.6:c.281C>G ENSP00000441668.3:p.Thr94Ser
ENST00000613327.4:c.-842C>G ENSP00000480757.1:n.-842C>G
ENST00000613327.5:c.281C>G ENSP00000480757.2:p.Thr94Ser
ENST00000685006.1:c.353C>G ENSP00000510318.1:p.Thr118Ser
ENST00000685060.1:n.518C>G
ENST00000685154.1:c.281C>G ENSP00000509251.1:p.Thr94Ser
ENST00000685627.1:c.*292C>G ENSP00000508637.1:n.*292C>G
ENST00000686289.1:n.113+15536C>G
ENST00000687572.1:c.-221+15536C>G ENSP00000510427.1:n.-221+15536C>G
ENST00000687705.1:c.*530C>G ENSP00000509639.1:n.*530C>G
ENST00000688812.1:c.281C>G ENSP00000510658.1:p.Thr94Ser
ENST00000689218.1:n.510C>G
ENST00000689484.1:c.-220-21221C>G ENSP00000509884.1:n.-220-21221C>G
ENST00000689797.1:c.-220-21221C>G ENSP00000510689.1:n.-220-21221C>G
ENST00000690544.1:c.281C>G ENSP00000508989.1:p.Thr94Ser
ENST00000692038.1:c.*530C>G ENSP00000509220.1:n.*530C>G
ENST00000692953.1:n.62+15536C>G
ENST00000692979.1:c.281C>G ENSP00000509849.1:p.Thr94Ser
XM_006718043.2:c.281C>G XP_006718106.1:p.Thr94Ser
XM_011540292.1:c.281C>G XP_011538594.1:p.Thr94Ser
XM_017016833.1:c.359C>G XP_016872322.1:p.Thr120Ser
XM_017016834.2:c.281C>G XP_016872323.1:p.Thr94Ser
XM_024448236.1:c.-221+15536C>G XP_024304004.1:n.-221+15536C>G