Canonical Allele Identifier: CA376859030
Community Standard Title: NM_032578.4(MYPN):c.3338T>A (p.Val1113Glu)
Gene: MYPN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.68199420T>A , CM000672.2:g.68199420T>A GRCh38
NC_000010.10:g.69959177T>A , CM000672.1:g.69959177T>A GRCh37
NC_000010.9:g.69629183T>A NCBI36
NG_032118.1:g.98304T>A , LRG_410:g.98304T>A

Transcript Alleles

HGVS Amino-acid Change
NM_032578.4:c.3338T>A MANE Select NP_115967.2:p.Val1113Glu
ENST00000358913.10:c.3338T>A MANE Select ENSP00000351790.5:p.Val1113Glu
NM_001256267.1:c.3338T>A NP_001243196.1:p.Val1113Glu
NM_001256267.2:c.3338T>A NP_001243196.1:p.Val1113Glu
NM_001256268.1:c.2456T>A NP_001243197.1:p.Val819Glu
NM_001256268.2:c.2456T>A NP_001243197.1:p.Val819Glu
NM_032578.3:c.3338T>A , LRG_410t1:c.3338T>A NP_115967.2:p.Val1113Glu
NR_045662.3:n.2765T>A
NR_045662.4:n.2875T>A
NR_045663.3:n.3467T>A
NR_045663.4:n.3412T>A
ENST00000354393.6:c.2513T>A ENSP00000346369.2:p.Val838Glu
ENST00000354393.7:c.2513T>A ENSP00000346369.2:p.Val838Glu
ENST00000358913.9:c.3338T>A ENSP00000351790.5:p.Val1113Glu
ENST00000540630.5:c.3338T>A ENSP00000441668.2:p.Val1113Glu
ENST00000540630.6:c.3392T>A ENSP00000441668.3:p.Val1131Glu
ENST00000613327.4:c.2456T>A ENSP00000480757.1:p.Val819Glu
ENST00000613327.5:c.3338T>A ENSP00000480757.2:p.Val1113Glu
ENST00000688812.1:c.*601T>A ENSP00000510658.1:n.*601T>A
ENST00000690544.1:c.*2609T>A ENSP00000508989.1:n.*2609T>A
XM_006718043.2:c.3392T>A XP_006718106.1:p.Val1131Glu
XM_011540292.1:c.3368T>A XP_011538594.1:p.Val1123Glu
XM_017016833.1:c.3416T>A XP_016872322.1:p.Val1139Glu
XM_017016834.2:c.3338T>A XP_016872323.1:p.Val1113Glu
XM_024448236.1:c.2216T>A XP_024304004.1:p.Val739Glu
XR_946029.1:n.1804-145A>T