Canonical Allele Identifier: CA376859028
Community Standard Title: NM_032578.4(MYPN):c.3337G>T (p.Val1113Leu)
Gene: MYPN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.68199419G>T , CM000672.2:g.68199419G>T GRCh38
NC_000010.10:g.69959176G>T , CM000672.1:g.69959176G>T GRCh37
NC_000010.9:g.69629182G>T NCBI36
NG_032118.1:g.98303G>T , LRG_410:g.98303G>T

Transcript Alleles

HGVS Amino-acid Change
NM_032578.4:c.3337G>T MANE Select NP_115967.2:p.Val1113Leu
ENST00000358913.10:c.3337G>T MANE Select ENSP00000351790.5:p.Val1113Leu
NM_001256267.1:c.3337G>T NP_001243196.1:p.Val1113Leu
NM_001256267.2:c.3337G>T NP_001243196.1:p.Val1113Leu
NM_001256268.1:c.2455G>T NP_001243197.1:p.Val819Leu
NM_001256268.2:c.2455G>T NP_001243197.1:p.Val819Leu
NM_032578.3:c.3337G>T , LRG_410t1:c.3337G>T NP_115967.2:p.Val1113Leu
NR_045662.3:n.2764G>T
NR_045662.4:n.2874G>T
NR_045663.3:n.3466G>T
NR_045663.4:n.3411G>T
ENST00000354393.6:c.2512G>T ENSP00000346369.2:p.Val838Leu
ENST00000354393.7:c.2512G>T ENSP00000346369.2:p.Val838Leu
ENST00000358913.9:c.3337G>T ENSP00000351790.5:p.Val1113Leu
ENST00000540630.5:c.3337G>T ENSP00000441668.2:p.Val1113Leu
ENST00000540630.6:c.3391G>T ENSP00000441668.3:p.Val1131Leu
ENST00000613327.4:c.2455G>T ENSP00000480757.1:p.Val819Leu
ENST00000613327.5:c.3337G>T ENSP00000480757.2:p.Val1113Leu
ENST00000688812.1:c.*600G>T ENSP00000510658.1:n.*600G>T
ENST00000690544.1:c.*2608G>T ENSP00000508989.1:n.*2608G>T
XM_006718043.2:c.3391G>T XP_006718106.1:p.Val1131Leu
XM_011540292.1:c.3367G>T XP_011538594.1:p.Val1123Leu
XM_017016833.1:c.3415G>T XP_016872322.1:p.Val1139Leu
XM_017016834.2:c.3337G>T XP_016872323.1:p.Val1113Leu
XM_024448236.1:c.2215G>T XP_024304004.1:p.Val739Leu
XR_946029.1:n.1804-144C>A