Canonical Allele Identifier: CA376830086
Gene: MYPN HGNC NCBI

Linked Data

ClinVar Variation Id: 847305
ClinVar RCV Id: RCV001050828
dbSNP Id: rs2043890485

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.68210363G>A , CM000672.2:g.68210363G>A GRCh38
NC_000010.10:g.69970120G>A , CM000672.1:g.69970120G>A GRCh37
NC_000010.9:g.69640126G>A NCBI36
NG_032118.1:g.109247G>A , LRG_410:g.109247G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000354393.7:c.3046G>A ENSP00000346369.2:p.Gly1016Arg
ENST00000540630.6:c.3925G>A ENSP00000441668.3:p.Gly1309Arg
ENST00000613327.5:c.3871G>A ENSP00000480757.2:p.Gly1291Arg
ENST00000688812.1:c.*1134G>A ENSP00000510658.1:n.*1134G>A
ENST00000690544.1:c.*3142G>A ENSP00000508989.1:n.*3142G>A
ENST00000358913.10:c.3871G>A MANE Select ENSP00000351790.5:p.Gly1291Arg
ENST00000354393.6:c.3046G>A ENSP00000346369.2:p.Gly1016Arg
ENST00000358913.9:c.3871G>A ENSP00000351790.5:p.Gly1291Arg
ENST00000540630.5:c.3871G>A ENSP00000441668.2:p.Gly1291Arg
ENST00000613327.4:c.2989G>A ENSP00000480757.1:p.Gly997Arg
NM_001256267.1:c.3871G>A NP_001243196.1:p.Gly1291Arg
NM_001256268.1:c.2989G>A NP_001243197.1:p.Gly997Arg
NM_032578.3:c.3871G>A , LRG_410t1:c.3871G>A NP_115967.2:p.Gly1291Arg
NR_045662.3:n.3298G>A
NR_045663.3:n.4000G>A
XM_006718043.2:c.3925G>A XP_006718106.1:p.Gly1309Arg
XM_011540292.1:c.3901G>A XP_011538594.1:p.Gly1301Arg
XR_946029.1:n.1574+4925C>T
XM_017016833.1:c.3949G>A XP_016872322.1:p.Gly1317Arg
XM_017016834.2:c.3871G>A XP_016872323.1:p.Gly1291Arg
XM_024448236.1:c.2749G>A XP_024304004.1:p.Gly917Arg
NR_045662.4:n.3408G>A
NR_045663.4:n.3945G>A
NM_001256267.2:c.3871G>A NP_001243196.1:p.Gly1291Arg
NM_001256268.2:c.2989G>A NP_001243197.1:p.Gly997Arg
NM_032578.4:c.3871G>A MANE Select NP_115967.2:p.Gly1291Arg