Canonical Allele Identifier: CA376859190
Gene: MYPN HGNC NCBI
MyVariant.info:
Revel Score:

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.68199465T>C , CM000672.2:g.68199465T>C GRCh38
NC_000010.10:g.69959222T>C , CM000672.1:g.69959222T>C GRCh37
NC_000010.9:g.69629228T>C NCBI36
NG_032118.1:g.98349T>C , LRG_410:g.98349T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000354393.7:c.2558T>C ENSP00000346369.2:p.Val853Ala
ENST00000540630.6:c.3437T>C ENSP00000441668.3:p.Val1146Ala
ENST00000613327.5:c.3383T>C ENSP00000480757.2:p.Val1128Ala
ENST00000688812.1:c.*646T>C ENSP00000510658.1:n.*646T>C
ENST00000690544.1:c.*2654T>C ENSP00000508989.1:n.*2654T>C
ENST00000358913.10:c.3383T>C MANE Select ENSP00000351790.5:p.Val1128Ala
ENST00000354393.6:c.2558T>C ENSP00000346369.2:p.Val853Ala
ENST00000358913.9:c.3383T>C ENSP00000351790.5:p.Val1128Ala
ENST00000540630.5:c.3383T>C ENSP00000441668.2:p.Val1128Ala
ENST00000613327.4:c.2501T>C ENSP00000480757.1:p.Val834Ala
NM_001256267.1:c.3383T>C NP_001243196.1:p.Val1128Ala
NM_001256268.1:c.2501T>C NP_001243197.1:p.Val834Ala
NM_032578.3:c.3383T>C , LRG_410t1:c.3383T>C NP_115967.2:p.Val1128Ala
NR_045662.3:n.2810T>C
NR_045663.3:n.3512T>C
XM_006718043.2:c.3437T>C XP_006718106.1:p.Val1146Ala
XM_011540292.1:c.3413T>C XP_011538594.1:p.Val1138Ala
XR_946029.1:n.1804-190A>G
XM_017016833.1:c.3461T>C XP_016872322.1:p.Val1154Ala
XM_017016834.2:c.3383T>C XP_016872323.1:p.Val1128Ala
XM_024448236.1:c.2261T>C XP_024304004.1:p.Val754Ala
NR_045662.4:n.2920T>C
NR_045663.4:n.3457T>C
NM_001256267.2:c.3383T>C NP_001243196.1:p.Val1128Ala
NM_001256268.2:c.2501T>C NP_001243197.1:p.Val834Ala
NM_032578.4:c.3383T>C MANE Select NP_115967.2:p.Val1128Ala