Canonical Allele Identifier: CA376859311
Community Standard Title: NM_032578.4(MYPN):c.3433A>G (p.Lys1145Glu)
Gene: MYPN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.68199515A>G , CM000672.2:g.68199515A>G GRCh38
NC_000010.10:g.69959272A>G , CM000672.1:g.69959272A>G GRCh37
NC_000010.9:g.69629278A>G NCBI36
NG_032118.1:g.98399A>G , LRG_410:g.98399A>G

Transcript Alleles

HGVS Amino-acid Change
NM_032578.4:c.3433A>G MANE Select NP_115967.2:p.Lys1145Glu
ENST00000358913.10:c.3433A>G MANE Select ENSP00000351790.5:p.Lys1145Glu
NM_001256267.1:c.3433A>G NP_001243196.1:p.Lys1145Glu
NM_001256267.2:c.3433A>G NP_001243196.1:p.Lys1145Glu
NM_001256268.1:c.2551A>G NP_001243197.1:p.Lys851Glu
NM_001256268.2:c.2551A>G NP_001243197.1:p.Lys851Glu
NM_032578.3:c.3433A>G , LRG_410t1:c.3433A>G NP_115967.2:p.Lys1145Glu
NR_045662.3:n.2860A>G
NR_045662.4:n.2970A>G
NR_045663.3:n.3562A>G
NR_045663.4:n.3507A>G
ENST00000354393.6:c.2608A>G ENSP00000346369.2:p.Lys870Glu
ENST00000354393.7:c.2608A>G ENSP00000346369.2:p.Lys870Glu
ENST00000358913.9:c.3433A>G ENSP00000351790.5:p.Lys1145Glu
ENST00000540630.5:c.3433A>G ENSP00000441668.2:p.Lys1145Glu
ENST00000540630.6:c.3487A>G ENSP00000441668.3:p.Lys1163Glu
ENST00000613327.4:c.2551A>G ENSP00000480757.1:p.Lys851Glu
ENST00000613327.5:c.3433A>G ENSP00000480757.2:p.Lys1145Glu
ENST00000688812.1:c.*696A>G ENSP00000510658.1:n.*696A>G
ENST00000690544.1:c.*2704A>G ENSP00000508989.1:n.*2704A>G
XM_006718043.2:c.3487A>G XP_006718106.1:p.Lys1163Glu
XM_011540292.1:c.3463A>G XP_011538594.1:p.Lys1155Glu
XM_017016833.1:c.3511A>G XP_016872322.1:p.Lys1171Glu
XM_017016834.2:c.3433A>G XP_016872323.1:p.Lys1145Glu
XM_024448236.1:c.2311A>G XP_024304004.1:p.Lys771Glu
XR_946029.1:n.1804-240T>C