Canonical Allele Identifier: CA376859272
Gene: MYPN HGNC NCBI

Linked Data

ClinVar Variation Id: 3228170
ClinVar RCV Id: RCV004519880

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.68199495A>T , CM000672.2:g.68199495A>T GRCh38
NC_000010.10:g.69959252A>T , CM000672.1:g.69959252A>T GRCh37
NC_000010.9:g.69629258A>T NCBI36
NG_032118.1:g.98379A>T , LRG_410:g.98379A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000354393.7:c.2588A>T ENSP00000346369.2:p.Gln863Leu
ENST00000540630.6:c.3467A>T ENSP00000441668.3:p.Gln1156Leu
ENST00000613327.5:c.3413A>T ENSP00000480757.2:p.Gln1138Leu
ENST00000688812.1:c.*676A>T ENSP00000510658.1:n.*676A>T
ENST00000690544.1:c.*2684A>T ENSP00000508989.1:n.*2684A>T
ENST00000358913.10:c.3413A>T MANE Select ENSP00000351790.5:p.Gln1138Leu
ENST00000354393.6:c.2588A>T ENSP00000346369.2:p.Gln863Leu
ENST00000358913.9:c.3413A>T ENSP00000351790.5:p.Gln1138Leu
ENST00000540630.5:c.3413A>T ENSP00000441668.2:p.Gln1138Leu
ENST00000613327.4:c.2531A>T ENSP00000480757.1:p.Gln844Leu
NM_001256267.1:c.3413A>T NP_001243196.1:p.Gln1138Leu
NM_001256268.1:c.2531A>T NP_001243197.1:p.Gln844Leu
NM_032578.3:c.3413A>T , LRG_410t1:c.3413A>T NP_115967.2:p.Gln1138Leu
NR_045662.3:n.2840A>T
NR_045663.3:n.3542A>T
XM_006718043.2:c.3467A>T XP_006718106.1:p.Gln1156Leu
XM_011540292.1:c.3443A>T XP_011538594.1:p.Gln1148Leu
XR_946029.1:n.1804-220T>A
XM_017016833.1:c.3491A>T XP_016872322.1:p.Gln1164Leu
XM_017016834.2:c.3413A>T XP_016872323.1:p.Gln1138Leu
XM_024448236.1:c.2291A>T XP_024304004.1:p.Gln764Leu
NR_045662.4:n.2950A>T
NR_045663.4:n.3487A>T
NM_001256267.2:c.3413A>T NP_001243196.1:p.Gln1138Leu
NM_001256268.2:c.2531A>T NP_001243197.1:p.Gln844Leu
NM_032578.4:c.3413A>T MANE Select NP_115967.2:p.Gln1138Leu