Canonical Allele Identifier: CA376859279
Community Standard Title: NM_032578.4(MYPN):c.3418G>C (p.Asp1140His)
Gene: MYPN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.68199500G>C , CM000672.2:g.68199500G>C GRCh38
NC_000010.10:g.69959257G>C , CM000672.1:g.69959257G>C GRCh37
NC_000010.9:g.69629263G>C NCBI36
NG_032118.1:g.98384G>C , LRG_410:g.98384G>C

Transcript Alleles

HGVS Amino-acid Change
NM_032578.4:c.3418G>C MANE Select NP_115967.2:p.Asp1140His
ENST00000358913.10:c.3418G>C MANE Select ENSP00000351790.5:p.Asp1140His
NM_001256267.1:c.3418G>C NP_001243196.1:p.Asp1140His
NM_001256267.2:c.3418G>C NP_001243196.1:p.Asp1140His
NM_001256268.1:c.2536G>C NP_001243197.1:p.Asp846His
NM_001256268.2:c.2536G>C NP_001243197.1:p.Asp846His
NM_032578.3:c.3418G>C , LRG_410t1:c.3418G>C NP_115967.2:p.Asp1140His
NR_045662.3:n.2845G>C
NR_045662.4:n.2955G>C
NR_045663.3:n.3547G>C
NR_045663.4:n.3492G>C
ENST00000354393.6:c.2593G>C ENSP00000346369.2:p.Asp865His
ENST00000354393.7:c.2593G>C ENSP00000346369.2:p.Asp865His
ENST00000358913.9:c.3418G>C ENSP00000351790.5:p.Asp1140His
ENST00000540630.5:c.3418G>C ENSP00000441668.2:p.Asp1140His
ENST00000540630.6:c.3472G>C ENSP00000441668.3:p.Asp1158His
ENST00000613327.4:c.2536G>C ENSP00000480757.1:p.Asp846His
ENST00000613327.5:c.3418G>C ENSP00000480757.2:p.Asp1140His
ENST00000688812.1:c.*681G>C ENSP00000510658.1:n.*681G>C
ENST00000690544.1:c.*2689G>C ENSP00000508989.1:n.*2689G>C
XM_006718043.2:c.3472G>C XP_006718106.1:p.Asp1158His
XM_011540292.1:c.3448G>C XP_011538594.1:p.Asp1150His
XM_017016833.1:c.3496G>C XP_016872322.1:p.Asp1166His
XM_017016834.2:c.3418G>C XP_016872323.1:p.Asp1140His
XM_024448236.1:c.2296G>C XP_024304004.1:p.Asp766His
XR_946029.1:n.1804-225C>G