Canonical Allele Identifier: CA215326
Community Standard Title: NM_032578.4(MYPN):c.3793G>C (p.Ala1265Pro)
Gene: MYPN HGNC NCBI

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
NM_032578.4:c.3793G>C MANE Select NP_115967.2:p.Ala1265Pro
ENST00000358913.10:c.3793G>C MANE Select ENSP00000351790.5:p.Ala1265Pro
NM_001256267.1:c.3793G>C NP_001243196.1:p.Ala1265Pro
NM_001256267.2:c.3793G>C NP_001243196.1:p.Ala1265Pro
NM_001256268.1:c.2911G>C NP_001243197.1:p.Ala971Pro
NM_001256268.2:c.2911G>C NP_001243197.1:p.Ala971Pro
NM_032578.3:c.3793G>C , LRG_410t1:c.3793G>C NP_115967.2:p.Ala1265Pro
NR_045662.3:n.3220G>C
NR_045662.4:n.3330G>C
NR_045663.3:n.3922G>C
NR_045663.4:n.3867G>C
ENST00000354393.6:c.2968G>C ENSP00000346369.2:p.Ala990Pro
ENST00000354393.7:c.2968G>C ENSP00000346369.2:p.Ala990Pro
ENST00000358913.9:c.3793G>C ENSP00000351790.5:p.Ala1265Pro
ENST00000540630.5:c.3793G>C ENSP00000441668.2:p.Ala1265Pro
ENST00000540630.6:c.3847G>C ENSP00000441668.3:p.Ala1283Pro
ENST00000613327.4:c.2911G>C ENSP00000480757.1:p.Ala971Pro
ENST00000613327.5:c.3793G>C ENSP00000480757.2:p.Ala1265Pro
ENST00000688812.1:c.*1056G>C ENSP00000510658.1:n.*1056G>C
ENST00000690544.1:c.*3064G>C ENSP00000508989.1:n.*3064G>C
XM_006718043.2:c.3847G>C XP_006718106.1:p.Ala1283Pro
XM_011540292.1:c.3823G>C XP_011538594.1:p.Ala1275Pro
XM_017016833.1:c.3871G>C XP_016872322.1:p.Ala1291Pro
XM_017016834.2:c.3793G>C XP_016872323.1:p.Ala1265Pro
XM_024448236.1:c.2671G>C XP_024304004.1:p.Ala891Pro
XR_946029.1:n.1575-2644C>G