Canonical Allele Identifier: CA376859283
Community Standard Title: NM_032578.4(MYPN):c.3419A>C (p.Asp1140Ala)
Gene: MYPN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.68199501A>C , CM000672.2:g.68199501A>C GRCh38
NC_000010.10:g.69959258A>C , CM000672.1:g.69959258A>C GRCh37
NC_000010.9:g.69629264A>C NCBI36
NG_032118.1:g.98385A>C , LRG_410:g.98385A>C

Transcript Alleles

HGVS Amino-acid Change
NM_032578.4:c.3419A>C MANE Select NP_115967.2:p.Asp1140Ala
ENST00000358913.10:c.3419A>C MANE Select ENSP00000351790.5:p.Asp1140Ala
NM_001256267.1:c.3419A>C NP_001243196.1:p.Asp1140Ala
NM_001256267.2:c.3419A>C NP_001243196.1:p.Asp1140Ala
NM_001256268.1:c.2537A>C NP_001243197.1:p.Asp846Ala
NM_001256268.2:c.2537A>C NP_001243197.1:p.Asp846Ala
NM_032578.3:c.3419A>C , LRG_410t1:c.3419A>C NP_115967.2:p.Asp1140Ala
NR_045662.3:n.2846A>C
NR_045662.4:n.2956A>C
NR_045663.3:n.3548A>C
NR_045663.4:n.3493A>C
ENST00000354393.6:c.2594A>C ENSP00000346369.2:p.Asp865Ala
ENST00000354393.7:c.2594A>C ENSP00000346369.2:p.Asp865Ala
ENST00000358913.9:c.3419A>C ENSP00000351790.5:p.Asp1140Ala
ENST00000540630.5:c.3419A>C ENSP00000441668.2:p.Asp1140Ala
ENST00000540630.6:c.3473A>C ENSP00000441668.3:p.Asp1158Ala
ENST00000613327.4:c.2537A>C ENSP00000480757.1:p.Asp846Ala
ENST00000613327.5:c.3419A>C ENSP00000480757.2:p.Asp1140Ala
ENST00000688812.1:c.*682A>C ENSP00000510658.1:n.*682A>C
ENST00000690544.1:c.*2690A>C ENSP00000508989.1:n.*2690A>C
XM_006718043.2:c.3473A>C XP_006718106.1:p.Asp1158Ala
XM_011540292.1:c.3449A>C XP_011538594.1:p.Asp1150Ala
XM_017016833.1:c.3497A>C XP_016872322.1:p.Asp1166Ala
XM_017016834.2:c.3419A>C XP_016872323.1:p.Asp1140Ala
XM_024448236.1:c.2297A>C XP_024304004.1:p.Asp766Ala
XR_946029.1:n.1804-226T>G