Canonical Allele Identifier: CA376859020
Community Standard Title: NM_032578.4(MYPN):c.3334C>T (p.Pro1112Ser)
Gene: MYPN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.68199416C>T , CM000672.2:g.68199416C>T GRCh38
NC_000010.10:g.69959173C>T , CM000672.1:g.69959173C>T GRCh37
NC_000010.9:g.69629179C>T NCBI36
NG_032118.1:g.98300C>T , LRG_410:g.98300C>T

Transcript Alleles

HGVS Amino-acid Change
NM_032578.4:c.3334C>T MANE Select NP_115967.2:p.Pro1112Ser
ENST00000358913.10:c.3334C>T MANE Select ENSP00000351790.5:p.Pro1112Ser
NM_001256267.1:c.3334C>T NP_001243196.1:p.Pro1112Ser
NM_001256267.2:c.3334C>T NP_001243196.1:p.Pro1112Ser
NM_001256268.1:c.2452C>T NP_001243197.1:p.Pro818Ser
NM_001256268.2:c.2452C>T NP_001243197.1:p.Pro818Ser
NM_032578.3:c.3334C>T , LRG_410t1:c.3334C>T NP_115967.2:p.Pro1112Ser
NR_045662.3:n.2761C>T
NR_045662.4:n.2871C>T
NR_045663.3:n.3463C>T
NR_045663.4:n.3408C>T
ENST00000354393.6:c.2509C>T ENSP00000346369.2:p.Pro837Ser
ENST00000354393.7:c.2509C>T ENSP00000346369.2:p.Pro837Ser
ENST00000358913.9:c.3334C>T ENSP00000351790.5:p.Pro1112Ser
ENST00000540630.5:c.3334C>T ENSP00000441668.2:p.Pro1112Ser
ENST00000540630.6:c.3388C>T ENSP00000441668.3:p.Pro1130Ser
ENST00000613327.4:c.2452C>T ENSP00000480757.1:p.Pro818Ser
ENST00000613327.5:c.3334C>T ENSP00000480757.2:p.Pro1112Ser
ENST00000688812.1:c.*597C>T ENSP00000510658.1:n.*597C>T
ENST00000690544.1:c.*2605C>T ENSP00000508989.1:n.*2605C>T
XM_006718043.2:c.3388C>T XP_006718106.1:p.Pro1130Ser
XM_011540292.1:c.3364C>T XP_011538594.1:p.Pro1122Ser
XM_017016833.1:c.3412C>T XP_016872322.1:p.Pro1138Ser
XM_017016834.2:c.3334C>T XP_016872323.1:p.Pro1112Ser
XM_024448236.1:c.2212C>T XP_024304004.1:p.Pro738Ser
XR_946029.1:n.1804-141G>A