Canonical Allele Identifier: CA376858968
Gene: MYPN HGNC NCBI
MyVariant.info:
Revel Score:

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.68199401C>A , CM000672.2:g.68199401C>A GRCh38
NC_000010.10:g.69959158C>A , CM000672.1:g.69959158C>A GRCh37
NC_000010.9:g.69629164C>A NCBI36
NG_032118.1:g.98285C>A , LRG_410:g.98285C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000354393.7:c.2494C>A ENSP00000346369.2:p.Leu832Ile
ENST00000540630.6:c.3373C>A ENSP00000441668.3:p.Leu1125Ile
ENST00000613327.5:c.3319C>A ENSP00000480757.2:p.Leu1107Ile
ENST00000688812.1:c.*582C>A ENSP00000510658.1:n.*582C>A
ENST00000690544.1:c.*2590C>A ENSP00000508989.1:n.*2590C>A
ENST00000358913.10:c.3319C>A MANE Select ENSP00000351790.5:p.Leu1107Ile
ENST00000354393.6:c.2494C>A ENSP00000346369.2:p.Leu832Ile
ENST00000358913.9:c.3319C>A ENSP00000351790.5:p.Leu1107Ile
ENST00000540630.5:c.3319C>A ENSP00000441668.2:p.Leu1107Ile
ENST00000613327.4:c.2437C>A ENSP00000480757.1:p.Leu813Ile
NM_001256267.1:c.3319C>A NP_001243196.1:p.Leu1107Ile
NM_001256268.1:c.2437C>A NP_001243197.1:p.Leu813Ile
NM_032578.3:c.3319C>A , LRG_410t1:c.3319C>A NP_115967.2:p.Leu1107Ile
NR_045662.3:n.2746C>A
NR_045663.3:n.3448C>A
XM_006718043.2:c.3373C>A XP_006718106.1:p.Leu1125Ile
XM_011540292.1:c.3349C>A XP_011538594.1:p.Leu1117Ile
XR_946029.1:n.1804-126G>T
XM_017016833.1:c.3397C>A XP_016872322.1:p.Leu1133Ile
XM_017016834.2:c.3319C>A XP_016872323.1:p.Leu1107Ile
XM_024448236.1:c.2197C>A XP_024304004.1:p.Leu733Ile
NR_045662.4:n.2856C>A
NR_045663.4:n.3393C>A
NM_001256267.2:c.3319C>A NP_001243196.1:p.Leu1107Ile
NM_001256268.2:c.2437C>A NP_001243197.1:p.Leu813Ile
NM_032578.4:c.3319C>A MANE Select NP_115967.2:p.Leu1107Ile