Canonical Allele Identifier: CA238416
Community Standard Title: NM_032578.4(MYPN):c.952G>A (p.Val318Ile)
Gene: MYPN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.68142989G>A , CM000672.2:g.68142989G>A GRCh38
NC_000010.10:g.69902746G>A , CM000672.1:g.69902746G>A GRCh37
NC_000010.9:g.69572752G>A NCBI36
NG_032118.1:g.41873G>A , LRG_410:g.41873G>A

Transcript Alleles

HGVS Amino-acid Change
NM_032578.4:c.952G>A MANE Select NP_115967.2:p.Val318Ile
ENST00000358913.10:c.952G>A MANE Select ENSP00000351790.5:p.Val318Ile
NM_001256267.1:c.952G>A NP_001243196.1:p.Val318Ile
NM_001256267.2:c.952G>A NP_001243196.1:p.Val318Ile
NM_001256268.1:c.70G>A NP_001243197.1:p.Val24Ile
NM_001256268.2:c.70G>A NP_001243197.1:p.Val24Ile
NM_032578.3:c.952G>A , LRG_410t1:c.952G>A NP_115967.2:p.Val318Ile
NR_045662.3:n.379G>A
NR_045662.4:n.489G>A
NR_045663.3:n.1244G>A
NR_045663.4:n.1189G>A
ENST00000354393.6:c.127G>A ENSP00000346369.2:p.Val43Ile
ENST00000354393.7:c.127G>A ENSP00000346369.2:p.Val43Ile
ENST00000358913.9:c.952G>A ENSP00000351790.5:p.Val318Ile
ENST00000373675.3:c.952G>A ENSP00000362779.3:p.Val318Ile
ENST00000373675.4:c.952G>A ENSP00000362779.4:p.Val318Ile
ENST00000540630.5:c.952G>A ENSP00000441668.2:p.Val318Ile
ENST00000540630.6:c.1006G>A ENSP00000441668.3:p.Val336Ile
ENST00000613327.4:c.70G>A ENSP00000480757.1:p.Val24Ile
ENST00000613327.5:c.952G>A ENSP00000480757.2:p.Val318Ile
ENST00000685006.1:c.1024G>A ENSP00000510318.1:p.Val342Ile
ENST00000685060.1:n.1189G>A
ENST00000685154.1:c.952G>A ENSP00000509251.1:p.Val318Ile
ENST00000685627.1:c.*963G>A ENSP00000508637.1:n.*963G>A
ENST00000686268.1:n.308G>A
ENST00000686289.1:n.163G>A
ENST00000687572.1:c.-171G>A ENSP00000510427.1:n.-171G>A
ENST00000687705.1:c.*1201G>A ENSP00000509639.1:n.*1201G>A
ENST00000688812.1:c.952G>A ENSP00000510658.1:p.Val318Ile
ENST00000689218.1:n.1181G>A
ENST00000689484.1:c.-171G>A ENSP00000509884.1:n.-171G>A
ENST00000689797.1:c.-171G>A ENSP00000510689.1:n.-171G>A
ENST00000690544.1:c.*223G>A ENSP00000508989.1:n.*223G>A
ENST00000692953.1:n.112G>A
ENST00000692979.1:c.952G>A ENSP00000509849.1:p.Val318Ile
ENST00000693699.1:c.50G>A
XM_006718043.2:c.1006G>A XP_006718106.1:p.Val336Ile
XM_011540292.1:c.1006G>A XP_011538594.1:p.Val336Ile
XM_017016833.1:c.1030G>A XP_016872322.1:p.Val344Ile
XM_017016834.2:c.952G>A XP_016872323.1:p.Val318Ile
XM_024448236.1:c.-171G>A XP_024304004.1:n.-171G>A