Canonical Allele Identifier: CA376859031
Community Standard Title: NM_032578.4(MYPN):c.3338T>G (p.Val1113Gly)
Gene: MYPN HGNC NCBI

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
NM_032578.4:c.3338T>G MANE Select NP_115967.2:p.Val1113Gly
ENST00000358913.10:c.3338T>G MANE Select ENSP00000351790.5:p.Val1113Gly
NM_001256267.1:c.3338T>G NP_001243196.1:p.Val1113Gly
NM_001256267.2:c.3338T>G NP_001243196.1:p.Val1113Gly
NM_001256268.1:c.2456T>G NP_001243197.1:p.Val819Gly
NM_001256268.2:c.2456T>G NP_001243197.1:p.Val819Gly
NM_032578.3:c.3338T>G , LRG_410t1:c.3338T>G NP_115967.2:p.Val1113Gly
NR_045662.3:n.2765T>G
NR_045662.4:n.2875T>G
NR_045663.3:n.3467T>G
NR_045663.4:n.3412T>G
ENST00000354393.6:c.2513T>G ENSP00000346369.2:p.Val838Gly
ENST00000354393.7:c.2513T>G ENSP00000346369.2:p.Val838Gly
ENST00000358913.9:c.3338T>G ENSP00000351790.5:p.Val1113Gly
ENST00000540630.5:c.3338T>G ENSP00000441668.2:p.Val1113Gly
ENST00000540630.6:c.3392T>G ENSP00000441668.3:p.Val1131Gly
ENST00000613327.4:c.2456T>G ENSP00000480757.1:p.Val819Gly
ENST00000613327.5:c.3338T>G ENSP00000480757.2:p.Val1113Gly
ENST00000688812.1:c.*601T>G ENSP00000510658.1:n.*601T>G
ENST00000690544.1:c.*2609T>G ENSP00000508989.1:n.*2609T>G
XM_006718043.2:c.3392T>G XP_006718106.1:p.Val1131Gly
XM_011540292.1:c.3368T>G XP_011538594.1:p.Val1123Gly
XM_017016833.1:c.3416T>G XP_016872322.1:p.Val1139Gly
XM_017016834.2:c.3338T>G XP_016872323.1:p.Val1113Gly
XM_024448236.1:c.2216T>G XP_024304004.1:p.Val739Gly
XR_946029.1:n.1804-145A>C