Canonical Allele Identifier: CA5522509
Community Standard Title: NM_032578.4(MYPN):c.1317+1G>A
Gene: MYPN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.68150112G>A , CM000672.2:g.68150112G>A GRCh38
NC_000010.10:g.69909869G>A , CM000672.1:g.69909869G>A GRCh37
NC_000010.9:g.69579875G>A NCBI36
NG_032118.1:g.48996G>A , LRG_410:g.48996G>A

Transcript Alleles

HGVS Amino-acid Change
NM_032578.4:c.1317+1G>A MANE Select NP_115967.2:n.1317+1G>A
ENST00000358913.10:c.1317+1G>A MANE Select ENSP00000351790.5:n.1317+1G>A
NM_001256267.1:c.1317+1G>A NP_001243196.1:n.1317+1G>A
NM_001256267.2:c.1317+1G>A NP_001243196.1:n.1317+1G>A
NM_001256268.1:c.435+1G>A NP_001243197.1:n.435+1G>A
NM_001256268.2:c.435+1G>A NP_001243197.1:n.435+1G>A
NM_032578.3:c.1317+1G>A , LRG_410t1:c.1317+1G>A NP_115967.2:n.1317+1G>A
NR_045662.3:n.744+1G>A
NR_045662.4:n.854+1G>A
NR_045663.3:n.1609+1G>A
NR_045663.4:n.1554+1G>A
ENST00000354393.6:c.492+1G>A ENSP00000346369.2:n.492+1G>A
ENST00000354393.7:c.492+1G>A ENSP00000346369.2:n.492+1G>A
ENST00000358913.9:c.1317+1G>A ENSP00000351790.5:n.1317+1G>A
ENST00000373675.3:c.1317+1G>A ENSP00000362779.3:n.1317+1G>A
ENST00000373675.4:c.1317+1G>A ENSP00000362779.4:n.1317+1G>A
ENST00000540630.5:c.1317+1G>A ENSP00000441668.2:n.1317+1G>A
ENST00000540630.6:c.1371+1G>A ENSP00000441668.3:n.1371+1G>A
ENST00000613327.4:c.435+1G>A ENSP00000480757.1:n.435+1G>A
ENST00000613327.5:c.1317+1G>A ENSP00000480757.2:n.1317+1G>A
ENST00000685006.1:c.1389+1G>A ENSP00000510318.1:n.1389+1G>A
ENST00000685060.1:n.1554+1G>A
ENST00000685154.1:c.1317+1G>A ENSP00000509251.1:n.1317+1G>A
ENST00000686289.1:n.528+1G>A
ENST00000687572.1:c.195+1G>A ENSP00000510427.1:n.195+1G>A
ENST00000687705.1:c.*1566+1G>A ENSP00000509639.1:n.*1566+1G>A
ENST00000688812.1:c.1317+1G>A ENSP00000510658.1:n.1317+1G>A
ENST00000689218.1:n.1546+1G>A
ENST00000689484.1:c.195+1G>A ENSP00000509884.1:n.195+1G>A
ENST00000689797.1:c.195+1G>A ENSP00000510689.1:n.195+1G>A
ENST00000690544.1:c.*588+1G>A ENSP00000508989.1:n.*588+1G>A
ENST00000692953.1:n.477+1G>A
ENST00000692979.1:c.1317+1G>A ENSP00000509849.1:n.1317+1G>A
ENST00000693699.1:c.300+1G>A
XM_006718043.2:c.1371+1G>A XP_006718106.1:n.1371+1G>A
XM_011540292.1:c.1371+1G>A XP_011538594.1:n.1371+1G>A
XM_017016833.1:c.1395+1G>A XP_016872322.1:n.1395+1G>A
XM_017016834.2:c.1317+1G>A XP_016872323.1:n.1317+1G>A
XM_024448236.1:c.195+1G>A XP_024304004.1:n.195+1G>A
XR_001747479.1:n.455-3394C>T
XR_001747480.1:n.455-1446C>T