Canonical Allele Identifier: CA376859292
Community Standard Title: NM_032578.4(MYPN):c.3424G>C (p.Gly1142Arg)
Gene: MYPN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.68199506G>C , CM000672.2:g.68199506G>C GRCh38
NC_000010.10:g.69959263G>C , CM000672.1:g.69959263G>C GRCh37
NC_000010.9:g.69629269G>C NCBI36
NG_032118.1:g.98390G>C , LRG_410:g.98390G>C

Transcript Alleles

HGVS Amino-acid Change
NM_032578.4:c.3424G>C MANE Select NP_115967.2:p.Gly1142Arg
ENST00000358913.10:c.3424G>C MANE Select ENSP00000351790.5:p.Gly1142Arg
NM_001256267.1:c.3424G>C NP_001243196.1:p.Gly1142Arg
NM_001256267.2:c.3424G>C NP_001243196.1:p.Gly1142Arg
NM_001256268.1:c.2542G>C NP_001243197.1:p.Gly848Arg
NM_001256268.2:c.2542G>C NP_001243197.1:p.Gly848Arg
NM_032578.3:c.3424G>C , LRG_410t1:c.3424G>C NP_115967.2:p.Gly1142Arg
NR_045662.3:n.2851G>C
NR_045662.4:n.2961G>C
NR_045663.3:n.3553G>C
NR_045663.4:n.3498G>C
ENST00000354393.6:c.2599G>C ENSP00000346369.2:p.Gly867Arg
ENST00000354393.7:c.2599G>C ENSP00000346369.2:p.Gly867Arg
ENST00000358913.9:c.3424G>C ENSP00000351790.5:p.Gly1142Arg
ENST00000540630.5:c.3424G>C ENSP00000441668.2:p.Gly1142Arg
ENST00000540630.6:c.3478G>C ENSP00000441668.3:p.Gly1160Arg
ENST00000613327.4:c.2542G>C ENSP00000480757.1:p.Gly848Arg
ENST00000613327.5:c.3424G>C ENSP00000480757.2:p.Gly1142Arg
ENST00000688812.1:c.*687G>C ENSP00000510658.1:n.*687G>C
ENST00000690544.1:c.*2695G>C ENSP00000508989.1:n.*2695G>C
XM_006718043.2:c.3478G>C XP_006718106.1:p.Gly1160Arg
XM_011540292.1:c.3454G>C XP_011538594.1:p.Gly1152Arg
XM_017016833.1:c.3502G>C XP_016872322.1:p.Gly1168Arg
XM_017016834.2:c.3424G>C XP_016872323.1:p.Gly1142Arg
XM_024448236.1:c.2302G>C XP_024304004.1:p.Gly768Arg
XR_946029.1:n.1804-231C>G