Canonical Allele Identifier: CA208226167
Community Standard Title: NM_032578.4(MYPN):c.3433A>C (p.Lys1145Gln)
Gene: MYPN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.68199515A>C , CM000672.2:g.68199515A>C GRCh38
NC_000010.10:g.69959272A>C , CM000672.1:g.69959272A>C GRCh37
NC_000010.9:g.69629278A>C NCBI36
NG_032118.1:g.98399A>C , LRG_410:g.98399A>C

Transcript Alleles

HGVS Amino-acid Change
NM_032578.4:c.3433A>C MANE Select NP_115967.2:p.Lys1145Gln
ENST00000358913.10:c.3433A>C MANE Select ENSP00000351790.5:p.Lys1145Gln
NM_001256267.1:c.3433A>C NP_001243196.1:p.Lys1145Gln
NM_001256267.2:c.3433A>C NP_001243196.1:p.Lys1145Gln
NM_001256268.1:c.2551A>C NP_001243197.1:p.Lys851Gln
NM_001256268.2:c.2551A>C NP_001243197.1:p.Lys851Gln
NM_032578.3:c.3433A>C , LRG_410t1:c.3433A>C NP_115967.2:p.Lys1145Gln
NR_045662.3:n.2860A>C
NR_045662.4:n.2970A>C
NR_045663.3:n.3562A>C
NR_045663.4:n.3507A>C
ENST00000354393.6:c.2608A>C ENSP00000346369.2:p.Lys870Gln
ENST00000354393.7:c.2608A>C ENSP00000346369.2:p.Lys870Gln
ENST00000358913.9:c.3433A>C ENSP00000351790.5:p.Lys1145Gln
ENST00000540630.5:c.3433A>C ENSP00000441668.2:p.Lys1145Gln
ENST00000540630.6:c.3487A>C ENSP00000441668.3:p.Lys1163Gln
ENST00000613327.4:c.2551A>C ENSP00000480757.1:p.Lys851Gln
ENST00000613327.5:c.3433A>C ENSP00000480757.2:p.Lys1145Gln
ENST00000688812.1:c.*696A>C ENSP00000510658.1:n.*696A>C
ENST00000690544.1:c.*2704A>C ENSP00000508989.1:n.*2704A>C
XM_006718043.2:c.3487A>C XP_006718106.1:p.Lys1163Gln
XM_011540292.1:c.3463A>C XP_011538594.1:p.Lys1155Gln
XM_017016833.1:c.3511A>C XP_016872322.1:p.Lys1171Gln
XM_017016834.2:c.3433A>C XP_016872323.1:p.Lys1145Gln
XM_024448236.1:c.2311A>C XP_024304004.1:p.Lys771Gln
XR_946029.1:n.1804-240T>G