Canonical Allele Identifier: CA200041
Community Standard Title: NM_032578.4(MYPN):c.3421G>A (p.Ala1141Thr)
Gene: MYPN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.68199503G>A , CM000672.2:g.68199503G>A GRCh38
NC_000010.10:g.69959260G>A , CM000672.1:g.69959260G>A GRCh37
NC_000010.9:g.69629266G>A NCBI36
NG_032118.1:g.98387G>A , LRG_410:g.98387G>A

Transcript Alleles

HGVS Amino-acid Change
NM_032578.4:c.3421G>A MANE Select NP_115967.2:p.Ala1141Thr
ENST00000358913.10:c.3421G>A MANE Select ENSP00000351790.5:p.Ala1141Thr
NM_001256267.1:c.3421G>A NP_001243196.1:p.Ala1141Thr
NM_001256267.2:c.3421G>A NP_001243196.1:p.Ala1141Thr
NM_001256268.1:c.2539G>A NP_001243197.1:p.Ala847Thr
NM_001256268.2:c.2539G>A NP_001243197.1:p.Ala847Thr
NM_032578.3:c.3421G>A , LRG_410t1:c.3421G>A NP_115967.2:p.Ala1141Thr
NR_045662.3:n.2848G>A
NR_045662.4:n.2958G>A
NR_045663.3:n.3550G>A
NR_045663.4:n.3495G>A
ENST00000354393.6:c.2596G>A ENSP00000346369.2:p.Ala866Thr
ENST00000354393.7:c.2596G>A ENSP00000346369.2:p.Ala866Thr
ENST00000358913.9:c.3421G>A ENSP00000351790.5:p.Ala1141Thr
ENST00000540630.5:c.3421G>A ENSP00000441668.2:p.Ala1141Thr
ENST00000540630.6:c.3475G>A ENSP00000441668.3:p.Ala1159Thr
ENST00000613327.4:c.2539G>A ENSP00000480757.1:p.Ala847Thr
ENST00000613327.5:c.3421G>A ENSP00000480757.2:p.Ala1141Thr
ENST00000688812.1:c.*684G>A ENSP00000510658.1:n.*684G>A
ENST00000690544.1:c.*2692G>A ENSP00000508989.1:n.*2692G>A
XM_006718043.2:c.3475G>A XP_006718106.1:p.Ala1159Thr
XM_011540292.1:c.3451G>A XP_011538594.1:p.Ala1151Thr
XM_017016833.1:c.3499G>A XP_016872322.1:p.Ala1167Thr
XM_017016834.2:c.3421G>A XP_016872323.1:p.Ala1141Thr
XM_024448236.1:c.2299G>A XP_024304004.1:p.Ala767Thr
XR_946029.1:n.1804-228C>T