Canonical Allele Identifier: CA469812408
Community Standard Title: NM_032578.4(MYPN):c.3348T>C (p.Asp1116=)
Gene: MYPN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.68199430T>C , CM000672.2:g.68199430T>C GRCh38
NC_000010.10:g.69959187T>C , CM000672.1:g.69959187T>C GRCh37
NC_000010.9:g.69629193T>C NCBI36
NG_032118.1:g.98314T>C , LRG_410:g.98314T>C

Transcript Alleles

HGVS Amino-acid Change
NM_032578.4:c.3348T>C MANE Select NP_115967.2:p.Asp1116=
ENST00000358913.10:c.3348T>C MANE Select ENSP00000351790.5:p.Asp1116=
NM_001256267.1:c.3348T>C NP_001243196.1:p.Asp1116=
NM_001256267.2:c.3348T>C NP_001243196.1:p.Asp1116=
NM_001256268.1:c.2466T>C NP_001243197.1:p.Asp822=
NM_001256268.2:c.2466T>C NP_001243197.1:p.Asp822=
NM_032578.3:c.3348T>C , LRG_410t1:c.3348T>C NP_115967.2:p.Asp1116=
NR_045662.3:n.2775T>C
NR_045662.4:n.2885T>C
NR_045663.3:n.3477T>C
NR_045663.4:n.3422T>C
ENST00000354393.6:c.2523T>C ENSP00000346369.2:p.Asp841=
ENST00000354393.7:c.2523T>C ENSP00000346369.2:p.Asp841=
ENST00000358913.9:c.3348T>C ENSP00000351790.5:p.Asp1116=
ENST00000540630.5:c.3348T>C ENSP00000441668.2:p.Asp1116=
ENST00000540630.6:c.3402T>C ENSP00000441668.3:p.Asp1134=
ENST00000613327.4:c.2466T>C ENSP00000480757.1:p.Asp822=
ENST00000613327.5:c.3348T>C ENSP00000480757.2:p.Asp1116=
ENST00000688812.1:c.*611T>C ENSP00000510658.1:n.*611T>C
ENST00000690544.1:c.*2619T>C ENSP00000508989.1:n.*2619T>C
XM_006718043.2:c.3402T>C XP_006718106.1:p.Asp1134=
XM_011540292.1:c.3378T>C XP_011538594.1:p.Asp1126=
XM_017016833.1:c.3426T>C XP_016872322.1:p.Asp1142=
XM_017016834.2:c.3348T>C XP_016872323.1:p.Asp1116=
XM_024448236.1:c.2226T>C XP_024304004.1:p.Asp742=
XR_946029.1:n.1804-155A>G