This is a test version of the ClinGen Allele Registry and hosts obsolete or unreal identifiers. Please visit here for the production version.
Canonical Allele Identifier: CA376858115
Gene: MYPN HGNC NCBI
MyVariant.info:
Revel Score:

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.68197365G>C , CM000672.2:g.68197365G>C GRCh38
NC_000010.10:g.69957122G>C , CM000672.1:g.69957122G>C GRCh37
NC_000010.9:g.69627128G>C NCBI36
NG_032118.1:g.96249G>C , LRG_410:g.96249G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000354393.7:c.2347G>C ENSP00000346369.2:p.Val783Leu
ENST00000540630.6:c.3226G>C ENSP00000441668.3:p.Val1076Leu
ENST00000613327.5:c.3172G>C ENSP00000480757.2:p.Val1058Leu
ENST00000688812.1:c.*435G>C ENSP00000510658.1:n.*435G>C
ENST00000690544.1:c.*2443G>C ENSP00000508989.1:n.*2443G>C
ENST00000358913.10:c.3172G>C MANE Select ENSP00000351790.5:p.Val1058Leu
ENST00000354393.6:c.2347G>C ENSP00000346369.2:p.Val783Leu
ENST00000358913.9:c.3172G>C ENSP00000351790.5:p.Val1058Leu
ENST00000540630.5:c.3172G>C ENSP00000441668.2:p.Val1058Leu
ENST00000613327.4:c.2290G>C ENSP00000480757.1:p.Val764Leu
NM_001256267.1:c.3172G>C NP_001243196.1:p.Val1058Leu
NM_001256268.1:c.2290G>C NP_001243197.1:p.Val764Leu
NM_032578.3:c.3172G>C , LRG_410t1:c.3172G>C NP_115967.2:p.Val1058Leu
NR_045662.3:n.2599G>C
NR_045663.3:n.3301G>C
XM_006718043.2:c.3226G>C XP_006718106.1:p.Val1076Leu
XM_011540292.1:c.3202G>C XP_011538594.1:p.Val1068Leu
XM_017016833.1:c.3250G>C XP_016872322.1:p.Val1084Leu
XM_017016834.2:c.3172G>C XP_016872323.1:p.Val1058Leu
XM_024448236.1:c.2050G>C XP_024304004.1:p.Val684Leu
NR_045662.4:n.2709G>C
NR_045663.4:n.3246G>C
NM_001256267.2:c.3172G>C NP_001243196.1:p.Val1058Leu
NM_001256268.2:c.2290G>C NP_001243197.1:p.Val764Leu
NM_032578.4:c.3172G>C MANE Select NP_115967.2:p.Val1058Leu