Canonical Allele Identifier: CA376838380
Gene: MYPN HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.68165788G>T , CM000672.2:g.68165788G>T GRCh38
NC_000010.10:g.69925545G>T , CM000672.1:g.69925545G>T GRCh37
NC_000010.9:g.69595551G>T NCBI36
NG_032118.1:g.64672G>T , LRG_410:g.64672G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000354393.7:c.745G>T ENSP00000346369.2:p.Val249Leu
ENST00000373675.4:c.1570G>T ENSP00000362779.4:p.Val524Leu
ENST00000540630.6:c.1624G>T ENSP00000441668.3:p.Val542Leu
ENST00000613327.5:c.1570G>T ENSP00000480757.2:p.Val524Leu
ENST00000687572.1:c.448G>T ENSP00000510427.1:p.Val150Leu
ENST00000687705.1:c.*1819G>T ENSP00000509639.1:n.*1819G>T
ENST00000688812.1:c.1546G>T ENSP00000510658.1:p.Val516Leu
ENST00000689002.1:n.622G>T
ENST00000690544.1:c.*841G>T ENSP00000508989.1:n.*841G>T
ENST00000358913.10:c.1570G>T MANE Select ENSP00000351790.5:p.Val524Leu
ENST00000354393.6:c.745G>T ENSP00000346369.2:p.Val249Leu
ENST00000358913.9:c.1570G>T ENSP00000351790.5:p.Val524Leu
ENST00000540630.5:c.1570G>T ENSP00000441668.2:p.Val524Leu
ENST00000613327.4:c.688G>T ENSP00000480757.1:p.Val230Leu
NM_001256267.1:c.1570G>T NP_001243196.1:p.Val524Leu
NM_001256268.1:c.688G>T NP_001243197.1:p.Val230Leu
NM_032578.3:c.1570G>T , LRG_410t1:c.1570G>T NP_115967.2:p.Val524Leu
NR_045662.3:n.997G>T
NR_045663.3:n.1838G>T
XM_006718043.2:c.1624G>T XP_006718106.1:p.Val542Leu
XM_011540292.1:c.1600G>T XP_011538594.1:p.Val534Leu
XM_017016833.1:c.1648G>T XP_016872322.1:p.Val550Leu
XM_017016834.2:c.1570G>T XP_016872323.1:p.Val524Leu
XM_024448236.1:c.448G>T XP_024304004.1:p.Val150Leu
NR_045662.4:n.1107G>T
NR_045663.4:n.1783G>T
NM_001256267.2:c.1570G>T NP_001243196.1:p.Val524Leu
NM_001256268.2:c.688G>T NP_001243197.1:p.Val230Leu
NM_032578.4:c.1570G>T MANE Select NP_115967.2:p.Val524Leu