Canonical Allele Identifier: CA376841183
Gene: MYPN HGNC NCBI

Linked Data

ClinVar Variation Id: 2574646
ClinVar RCV Id: RCV003319294

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.68166667G>C , CM000672.2:g.68166667G>C GRCh38
NC_000010.10:g.69926424G>C , CM000672.1:g.69926424G>C GRCh37
NC_000010.9:g.69596430G>C NCBI36
NG_032118.1:g.65551G>C , LRG_410:g.65551G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000354393.7:c.1148+1G>C ENSP00000346369.2:n.1148+1G>C
ENST00000373675.4:c.1974G>C ENSP00000362779.4:p.Leu658=
ENST00000540630.6:c.2027+1G>C ENSP00000441668.3:n.2027+1G>C
ENST00000613327.5:c.1973+1G>C ENSP00000480757.2:n.1973+1G>C
ENST00000688812.1:c.1949+1G>C ENSP00000510658.1:n.1949+1G>C
ENST00000690544.1:c.*1244+1G>C ENSP00000508989.1:n.*1244+1G>C
ENST00000358913.10:c.1973+1G>C MANE Select ENSP00000351790.5:n.1973+1G>C
ENST00000354393.6:c.1148+1G>C ENSP00000346369.2:n.1148+1G>C
ENST00000358913.9:c.1973+1G>C ENSP00000351790.5:n.1973+1G>C
ENST00000540630.5:c.1973+1G>C ENSP00000441668.2:n.1973+1G>C
ENST00000613327.4:c.1091+1G>C ENSP00000480757.1:n.1091+1G>C
NM_001256267.1:c.1973+1G>C NP_001243196.1:n.1973+1G>C
NM_001256268.1:c.1091+1G>C NP_001243197.1:n.1091+1G>C
NM_032578.3:c.1973+1G>C , LRG_410t1:c.1973+1G>C NP_115967.2:n.1973+1G>C
NR_045662.3:n.1400+1G>C
NR_045663.3:n.2241+1G>C
XM_006718043.2:c.2027+1G>C XP_006718106.1:n.2027+1G>C
XM_011540292.1:c.2003+1G>C XP_011538594.1:n.2003+1G>C
XM_017016833.1:c.2051+1G>C XP_016872322.1:n.2051+1G>C
XM_017016834.2:c.1973+1G>C XP_016872323.1:n.1973+1G>C
XM_024448236.1:c.851+1G>C XP_024304004.1:n.851+1G>C
NR_045662.4:n.1510+1G>C
NR_045663.4:n.2186+1G>C
NM_001256267.2:c.1973+1G>C NP_001243196.1:n.1973+1G>C
NM_001256268.2:c.1091+1G>C NP_001243197.1:n.1091+1G>C
NM_032578.4:c.1973+1G>C MANE Select NP_115967.2:n.1973+1G>C