Canonical Allele Identifier: CA469812398
Community Standard Title: NM_032578.4(MYPN):c.3339G>T (p.Val1113=)
Gene: MYPN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.68199421G>T , CM000672.2:g.68199421G>T GRCh38
NC_000010.10:g.69959178G>T , CM000672.1:g.69959178G>T GRCh37
NC_000010.9:g.69629184G>T NCBI36
NG_032118.1:g.98305G>T , LRG_410:g.98305G>T

Transcript Alleles

HGVS Amino-acid Change
NM_032578.4:c.3339G>T MANE Select NP_115967.2:p.Val1113=
ENST00000358913.10:c.3339G>T MANE Select ENSP00000351790.5:p.Val1113=
NM_001256267.1:c.3339G>T NP_001243196.1:p.Val1113=
NM_001256267.2:c.3339G>T NP_001243196.1:p.Val1113=
NM_001256268.1:c.2457G>T NP_001243197.1:p.Val819=
NM_001256268.2:c.2457G>T NP_001243197.1:p.Val819=
NM_032578.3:c.3339G>T , LRG_410t1:c.3339G>T NP_115967.2:p.Val1113=
NR_045662.3:n.2766G>T
NR_045662.4:n.2876G>T
NR_045663.3:n.3468G>T
NR_045663.4:n.3413G>T
ENST00000354393.6:c.2514G>T ENSP00000346369.2:p.Val838=
ENST00000354393.7:c.2514G>T ENSP00000346369.2:p.Val838=
ENST00000358913.9:c.3339G>T ENSP00000351790.5:p.Val1113=
ENST00000540630.5:c.3339G>T ENSP00000441668.2:p.Val1113=
ENST00000540630.6:c.3393G>T ENSP00000441668.3:p.Val1131=
ENST00000613327.4:c.2457G>T ENSP00000480757.1:p.Val819=
ENST00000613327.5:c.3339G>T ENSP00000480757.2:p.Val1113=
ENST00000688812.1:c.*602G>T ENSP00000510658.1:n.*602G>T
ENST00000690544.1:c.*2610G>T ENSP00000508989.1:n.*2610G>T
XM_006718043.2:c.3393G>T XP_006718106.1:p.Val1131=
XM_011540292.1:c.3369G>T XP_011538594.1:p.Val1123=
XM_017016833.1:c.3417G>T XP_016872322.1:p.Val1139=
XM_017016834.2:c.3339G>T XP_016872323.1:p.Val1113=
XM_024448236.1:c.2217G>T XP_024304004.1:p.Val739=
XR_946029.1:n.1804-146C>A