Canonical Allele Identifier: CA469796560
Community Standard Title: NM_032578.4(MYPN):c.3934C>A (p.Arg1312=)
Gene: MYPN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.68210426C>A , CM000672.2:g.68210426C>A GRCh38
NC_000010.10:g.69970183C>A , CM000672.1:g.69970183C>A GRCh37
NC_000010.9:g.69640189C>A NCBI36
NG_032118.1:g.109310C>A , LRG_410:g.109310C>A

Transcript Alleles

HGVS Amino-acid Change
NM_032578.4:c.3934C>A MANE Select NP_115967.2:p.Arg1312=
ENST00000358913.10:c.3934C>A MANE Select ENSP00000351790.5:p.Arg1312=
NM_001256267.1:c.3934C>A NP_001243196.1:p.Arg1312=
NM_001256267.2:c.3934C>A NP_001243196.1:p.Arg1312=
NM_001256268.1:c.3052C>A NP_001243197.1:p.Arg1018=
NM_001256268.2:c.3052C>A NP_001243197.1:p.Arg1018=
NM_032578.3:c.3934C>A , LRG_410t1:c.3934C>A NP_115967.2:p.Arg1312=
NR_045662.3:n.3361C>A
NR_045662.4:n.3471C>A
NR_045663.3:n.4063C>A
NR_045663.4:n.4008C>A
ENST00000354393.6:c.3109C>A ENSP00000346369.2:p.Arg1037=
ENST00000354393.7:c.3109C>A ENSP00000346369.2:p.Arg1037=
ENST00000358913.9:c.3934C>A ENSP00000351790.5:p.Arg1312=
ENST00000540630.5:c.3934C>A ENSP00000441668.2:p.Arg1312=
ENST00000540630.6:c.3988C>A ENSP00000441668.3:p.Arg1330=
ENST00000613327.4:c.3052C>A ENSP00000480757.1:p.Arg1018=
ENST00000613327.5:c.3934C>A ENSP00000480757.2:p.Arg1312=
ENST00000688812.1:c.*1197C>A ENSP00000510658.1:n.*1197C>A
ENST00000690544.1:c.*3205C>A ENSP00000508989.1:n.*3205C>A
XM_006718043.2:c.3988C>A XP_006718106.1:p.Arg1330=
XM_011540292.1:c.3964C>A XP_011538594.1:p.Arg1322=
XM_017016833.1:c.4012C>A XP_016872322.1:p.Arg1338=
XM_017016834.2:c.3934C>A XP_016872323.1:p.Arg1312=
XM_024448236.1:c.2812C>A XP_024304004.1:p.Arg938=
XR_946029.1:n.1574+4862G>T