Canonical Allele Identifier: CA335328
Community Standard Title: NM_032578.4(MYPN):c.3793G>A (p.Ala1265Thr)
Gene: MYPN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.68206903G>A , CM000672.2:g.68206903G>A GRCh38
NC_000010.10:g.69966660G>A , CM000672.1:g.69966660G>A GRCh37
NC_000010.9:g.69636666G>A NCBI36
NG_032118.1:g.105787G>A , LRG_410:g.105787G>A

Transcript Alleles

HGVS Amino-acid Change
NM_032578.4:c.3793G>A MANE Select NP_115967.2:p.Ala1265Thr
ENST00000358913.10:c.3793G>A MANE Select ENSP00000351790.5:p.Ala1265Thr
NM_001256267.1:c.3793G>A NP_001243196.1:p.Ala1265Thr
NM_001256267.2:c.3793G>A NP_001243196.1:p.Ala1265Thr
NM_001256268.1:c.2911G>A NP_001243197.1:p.Ala971Thr
NM_001256268.2:c.2911G>A NP_001243197.1:p.Ala971Thr
NM_032578.3:c.3793G>A , LRG_410t1:c.3793G>A NP_115967.2:p.Ala1265Thr
NR_045662.3:n.3220G>A
NR_045662.4:n.3330G>A
NR_045663.3:n.3922G>A
NR_045663.4:n.3867G>A
ENST00000354393.6:c.2968G>A ENSP00000346369.2:p.Ala990Thr
ENST00000354393.7:c.2968G>A ENSP00000346369.2:p.Ala990Thr
ENST00000358913.9:c.3793G>A ENSP00000351790.5:p.Ala1265Thr
ENST00000540630.5:c.3793G>A ENSP00000441668.2:p.Ala1265Thr
ENST00000540630.6:c.3847G>A ENSP00000441668.3:p.Ala1283Thr
ENST00000613327.4:c.2911G>A ENSP00000480757.1:p.Ala971Thr
ENST00000613327.5:c.3793G>A ENSP00000480757.2:p.Ala1265Thr
ENST00000688812.1:c.*1056G>A ENSP00000510658.1:n.*1056G>A
ENST00000690544.1:c.*3064G>A ENSP00000508989.1:n.*3064G>A
XM_006718043.2:c.3847G>A XP_006718106.1:p.Ala1283Thr
XM_011540292.1:c.3823G>A XP_011538594.1:p.Ala1275Thr
XM_017016833.1:c.3871G>A XP_016872322.1:p.Ala1291Thr
XM_017016834.2:c.3793G>A XP_016872323.1:p.Ala1265Thr
XM_024448236.1:c.2671G>A XP_024304004.1:p.Ala891Thr
XR_946029.1:n.1575-2644C>T