Canonical Allele Identifier: CA5522783
Community Standard Title: NM_032578.4(MYPN):c.2409C>A (p.Ser803Arg)
Gene: MYPN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.68174501C>A , CM000672.2:g.68174501C>A GRCh38
NC_000010.10:g.69934258C>A , CM000672.1:g.69934258C>A GRCh37
NC_000010.9:g.69604264C>A NCBI36
NG_032118.1:g.73385C>A , LRG_410:g.73385C>A

Transcript Alleles

HGVS Amino-acid Change
NM_032578.4:c.2409C>A MANE Select NP_115967.2:p.Ser803Arg
ENST00000358913.10:c.2409C>A MANE Select ENSP00000351790.5:p.Ser803Arg
NM_001256267.1:c.2409C>A NP_001243196.1:p.Ser803Arg
NM_001256267.2:c.2409C>A NP_001243196.1:p.Ser803Arg
NM_001256268.1:c.1527C>A NP_001243197.1:p.Ser509Arg
NM_001256268.2:c.1527C>A NP_001243197.1:p.Ser509Arg
NM_032578.3:c.2409C>A , LRG_410t1:c.2409C>A NP_115967.2:p.Ser803Arg
NR_045662.3:n.1836C>A
NR_045662.4:n.1946C>A
NR_045663.3:n.2677C>A
NR_045663.4:n.2622C>A
ENST00000354393.6:c.1584C>A ENSP00000346369.2:p.Ser528Arg
ENST00000354393.7:c.1584C>A ENSP00000346369.2:p.Ser528Arg
ENST00000358913.9:c.2409C>A ENSP00000351790.5:p.Ser803Arg
ENST00000540630.5:c.2409C>A ENSP00000441668.2:p.Ser803Arg
ENST00000540630.6:c.2463C>A ENSP00000441668.3:p.Ser821Arg
ENST00000613327.4:c.1527C>A ENSP00000480757.1:p.Ser509Arg
ENST00000613327.5:c.2409C>A ENSP00000480757.2:p.Ser803Arg
ENST00000688812.1:c.2385C>A ENSP00000510658.1:p.Ser795Arg
ENST00000690544.1:c.*1680C>A ENSP00000508989.1:n.*1680C>A
XM_006718043.2:c.2463C>A XP_006718106.1:p.Ser821Arg
XM_011540292.1:c.2439C>A XP_011538594.1:p.Ser813Arg
XM_017016833.1:c.2487C>A XP_016872322.1:p.Ser829Arg
XM_017016834.2:c.2409C>A XP_016872323.1:p.Ser803Arg
XM_024448236.1:c.1287C>A XP_024304004.1:p.Ser429Arg