Canonical Allele Identifier: CA376836106
Community Standard Title: NM_032578.4(MYPN):c.1483+6G>A
Gene: MYPN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.68161758G>A , CM000672.2:g.68161758G>A GRCh38
NC_000010.10:g.69921515G>A , CM000672.1:g.69921515G>A GRCh37
NC_000010.9:g.69591521G>A NCBI36
NG_032118.1:g.60642G>A , LRG_410:g.60642G>A

Transcript Alleles

HGVS Amino-acid Change
NM_032578.4:c.1483+6G>A MANE Select NP_115967.2:n.1483+6G>A
ENST00000358913.10:c.1483+6G>A MANE Select ENSP00000351790.5:n.1483+6G>A
NM_001256267.1:c.1483+6G>A NP_001243196.1:n.1483+6G>A
NM_001256267.2:c.1483+6G>A NP_001243196.1:n.1483+6G>A
NM_001256268.1:c.601+6G>A NP_001243197.1:n.601+6G>A
NM_001256268.2:c.601+6G>A NP_001243197.1:n.601+6G>A
NM_032578.3:c.1483+6G>A , LRG_410t1:c.1483+6G>A NP_115967.2:n.1483+6G>A
NR_045662.3:n.910+6G>A
NR_045662.4:n.1020+6G>A
NR_045663.3:n.1751+3131G>A
NR_045663.4:n.1696+3131G>A
ENST00000354393.6:c.658+6G>A ENSP00000346369.2:n.658+6G>A
ENST00000354393.7:c.658+6G>A ENSP00000346369.2:n.658+6G>A
ENST00000358913.9:c.1483+6G>A ENSP00000351790.5:n.1483+6G>A
ENST00000373675.3:c.1489G>A ENSP00000362779.3:p.Asp497Asn
ENST00000373675.4:c.1483+6G>A ENSP00000362779.4:n.1483+6G>A
ENST00000540630.5:c.1483+6G>A ENSP00000441668.2:n.1483+6G>A
ENST00000540630.6:c.1537+6G>A ENSP00000441668.3:n.1537+6G>A
ENST00000613327.4:c.601+6G>A ENSP00000480757.1:n.601+6G>A
ENST00000613327.5:c.1483+6G>A ENSP00000480757.2:n.1483+6G>A
ENST00000686289.1:n.700G>A
ENST00000687572.1:c.361+6G>A ENSP00000510427.1:n.361+6G>A
ENST00000687705.1:c.*1732+6G>A ENSP00000509639.1:n.*1732+6G>A
ENST00000688812.1:c.1459+3131G>A ENSP00000510658.1:n.1459+3131G>A
ENST00000689002.1:n.535+6G>A
ENST00000689218.1:n.1718G>A
ENST00000690544.1:c.*754+6G>A ENSP00000508989.1:n.*754+6G>A
XM_006718043.2:c.1537+6G>A XP_006718106.1:n.1537+6G>A
XM_011540292.1:c.1513+3131G>A XP_011538594.1:n.1513+3131G>A
XM_017016833.1:c.1561+6G>A XP_016872322.1:n.1561+6G>A
XM_017016834.2:c.1483+6G>A XP_016872323.1:n.1483+6G>A
XM_024448236.1:c.361+6G>A XP_024304004.1:n.361+6G>A