Canonical Allele Identifier: CA376859290
Community Standard Title: NM_032578.4(MYPN):c.3422C>T (p.Ala1141Val)
Gene: MYPN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.68199504C>T , CM000672.2:g.68199504C>T GRCh38
NC_000010.10:g.69959261C>T , CM000672.1:g.69959261C>T GRCh37
NC_000010.9:g.69629267C>T NCBI36
NG_032118.1:g.98388C>T , LRG_410:g.98388C>T

Transcript Alleles

HGVS Amino-acid Change
NM_032578.4:c.3422C>T MANE Select NP_115967.2:p.Ala1141Val
ENST00000358913.10:c.3422C>T MANE Select ENSP00000351790.5:p.Ala1141Val
NM_001256267.1:c.3422C>T NP_001243196.1:p.Ala1141Val
NM_001256267.2:c.3422C>T NP_001243196.1:p.Ala1141Val
NM_001256268.1:c.2540C>T NP_001243197.1:p.Ala847Val
NM_001256268.2:c.2540C>T NP_001243197.1:p.Ala847Val
NM_032578.3:c.3422C>T , LRG_410t1:c.3422C>T NP_115967.2:p.Ala1141Val
NR_045662.3:n.2849C>T
NR_045662.4:n.2959C>T
NR_045663.3:n.3551C>T
NR_045663.4:n.3496C>T
ENST00000354393.6:c.2597C>T ENSP00000346369.2:p.Ala866Val
ENST00000354393.7:c.2597C>T ENSP00000346369.2:p.Ala866Val
ENST00000358913.9:c.3422C>T ENSP00000351790.5:p.Ala1141Val
ENST00000540630.5:c.3422C>T ENSP00000441668.2:p.Ala1141Val
ENST00000540630.6:c.3476C>T ENSP00000441668.3:p.Ala1159Val
ENST00000613327.4:c.2540C>T ENSP00000480757.1:p.Ala847Val
ENST00000613327.5:c.3422C>T ENSP00000480757.2:p.Ala1141Val
ENST00000688812.1:c.*685C>T ENSP00000510658.1:n.*685C>T
ENST00000690544.1:c.*2693C>T ENSP00000508989.1:n.*2693C>T
XM_006718043.2:c.3476C>T XP_006718106.1:p.Ala1159Val
XM_011540292.1:c.3452C>T XP_011538594.1:p.Ala1151Val
XM_017016833.1:c.3500C>T XP_016872322.1:p.Ala1167Val
XM_017016834.2:c.3422C>T XP_016872323.1:p.Ala1141Val
XM_024448236.1:c.2300C>T XP_024304004.1:p.Ala767Val
XR_946029.1:n.1804-229G>A