Canonical Allele Identifier: CA5523023
Gene: MYPN HGNC NCBI
MyVariant.info:
Revel Score:
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.68199404C>T , CM000672.2:g.68199404C>T GRCh38
NC_000010.10:g.69959161C>T , CM000672.1:g.69959161C>T GRCh37
NC_000010.9:g.69629167C>T NCBI36
NG_032118.1:g.98288C>T , LRG_410:g.98288C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000354393.7:c.2497C>T ENSP00000346369.2:p.Leu833Phe
ENST00000540630.6:c.3376C>T ENSP00000441668.3:p.Leu1126Phe
ENST00000613327.5:c.3322C>T ENSP00000480757.2:p.Leu1108Phe
ENST00000688812.1:c.*585C>T ENSP00000510658.1:n.*585C>T
ENST00000690544.1:c.*2593C>T ENSP00000508989.1:n.*2593C>T
ENST00000358913.10:c.3322C>T MANE Select ENSP00000351790.5:p.Leu1108Phe
ENST00000354393.6:c.2497C>T ENSP00000346369.2:p.Leu833Phe
ENST00000358913.9:c.3322C>T ENSP00000351790.5:p.Leu1108Phe
ENST00000540630.5:c.3322C>T ENSP00000441668.2:p.Leu1108Phe
ENST00000613327.4:c.2440C>T ENSP00000480757.1:p.Leu814Phe
NM_001256267.1:c.3322C>T NP_001243196.1:p.Leu1108Phe
NM_001256268.1:c.2440C>T NP_001243197.1:p.Leu814Phe
NM_032578.3:c.3322C>T , LRG_410t1:c.3322C>T NP_115967.2:p.Leu1108Phe
NR_045662.3:n.2749C>T
NR_045663.3:n.3451C>T
XM_006718043.2:c.3376C>T XP_006718106.1:p.Leu1126Phe
XM_011540292.1:c.3352C>T XP_011538594.1:p.Leu1118Phe
XR_946029.1:n.1804-129G>A
XM_017016833.1:c.3400C>T XP_016872322.1:p.Leu1134Phe
XM_017016834.2:c.3322C>T XP_016872323.1:p.Leu1108Phe
XM_024448236.1:c.2200C>T XP_024304004.1:p.Leu734Phe
NR_045662.4:n.2859C>T
NR_045663.4:n.3396C>T
NM_001256267.2:c.3322C>T NP_001243196.1:p.Leu1108Phe
NM_001256268.2:c.2440C>T NP_001243197.1:p.Leu814Phe
NM_032578.4:c.3322C>T MANE Select NP_115967.2:p.Leu1108Phe