Canonical Allele Identifier: CA249984
Community Standard Title: NM_032578.4(MYPN):c.3335C>A (p.Pro1112His)
Gene: MYPN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.68199417C>A , CM000672.2:g.68199417C>A GRCh38
NC_000010.10:g.69959174C>A , CM000672.1:g.69959174C>A GRCh37
NC_000010.9:g.69629180C>A NCBI36
NG_032118.1:g.98301C>A , LRG_410:g.98301C>A

Transcript Alleles

HGVS Amino-acid Change
NM_032578.4:c.3335C>A MANE Select NP_115967.2:p.Pro1112His
ENST00000358913.10:c.3335C>A MANE Select ENSP00000351790.5:p.Pro1112His
NM_001256267.1:c.3335C>A NP_001243196.1:p.Pro1112His
NM_001256267.2:c.3335C>A NP_001243196.1:p.Pro1112His
NM_001256268.1:c.2453C>A NP_001243197.1:p.Pro818His
NM_001256268.2:c.2453C>A NP_001243197.1:p.Pro818His
NM_032578.3:c.3335C>A , LRG_410t1:c.3335C>A NP_115967.2:p.Pro1112His
NR_045662.3:n.2762C>A
NR_045662.4:n.2872C>A
NR_045663.3:n.3464C>A
NR_045663.4:n.3409C>A
ENST00000354393.6:c.2510C>A ENSP00000346369.2:p.Pro837His
ENST00000354393.7:c.2510C>A ENSP00000346369.2:p.Pro837His
ENST00000358913.9:c.3335C>A ENSP00000351790.5:p.Pro1112His
ENST00000540630.5:c.3335C>A ENSP00000441668.2:p.Pro1112His
ENST00000540630.6:c.3389C>A ENSP00000441668.3:p.Pro1130His
ENST00000613327.4:c.2453C>A ENSP00000480757.1:p.Pro818His
ENST00000613327.5:c.3335C>A ENSP00000480757.2:p.Pro1112His
ENST00000688812.1:c.*598C>A ENSP00000510658.1:n.*598C>A
ENST00000690544.1:c.*2606C>A ENSP00000508989.1:n.*2606C>A
XM_006718043.2:c.3389C>A XP_006718106.1:p.Pro1130His
XM_011540292.1:c.3365C>A XP_011538594.1:p.Pro1122His
XM_017016833.1:c.3413C>A XP_016872322.1:p.Pro1138His
XM_017016834.2:c.3335C>A XP_016872323.1:p.Pro1112His
XM_024448236.1:c.2213C>A XP_024304004.1:p.Pro738His
XR_946029.1:n.1804-142G>T