Canonical Allele Identifier: CA376859036
Community Standard Title: NM_032578.4(MYPN):c.3340C>G (p.Leu1114Val)
Gene: MYPN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.68199422C>G , CM000672.2:g.68199422C>G GRCh38
NC_000010.10:g.69959179C>G , CM000672.1:g.69959179C>G GRCh37
NC_000010.9:g.69629185C>G NCBI36
NG_032118.1:g.98306C>G , LRG_410:g.98306C>G

Transcript Alleles

HGVS Amino-acid Change
NM_032578.4:c.3340C>G MANE Select NP_115967.2:p.Leu1114Val
ENST00000358913.10:c.3340C>G MANE Select ENSP00000351790.5:p.Leu1114Val
NM_001256267.1:c.3340C>G NP_001243196.1:p.Leu1114Val
NM_001256267.2:c.3340C>G NP_001243196.1:p.Leu1114Val
NM_001256268.1:c.2458C>G NP_001243197.1:p.Leu820Val
NM_001256268.2:c.2458C>G NP_001243197.1:p.Leu820Val
NM_032578.3:c.3340C>G , LRG_410t1:c.3340C>G NP_115967.2:p.Leu1114Val
NR_045662.3:n.2767C>G
NR_045662.4:n.2877C>G
NR_045663.3:n.3469C>G
NR_045663.4:n.3414C>G
ENST00000354393.6:c.2515C>G ENSP00000346369.2:p.Leu839Val
ENST00000354393.7:c.2515C>G ENSP00000346369.2:p.Leu839Val
ENST00000358913.9:c.3340C>G ENSP00000351790.5:p.Leu1114Val
ENST00000540630.5:c.3340C>G ENSP00000441668.2:p.Leu1114Val
ENST00000540630.6:c.3394C>G ENSP00000441668.3:p.Leu1132Val
ENST00000613327.4:c.2458C>G ENSP00000480757.1:p.Leu820Val
ENST00000613327.5:c.3340C>G ENSP00000480757.2:p.Leu1114Val
ENST00000688812.1:c.*603C>G ENSP00000510658.1:n.*603C>G
ENST00000690544.1:c.*2611C>G ENSP00000508989.1:n.*2611C>G
XM_006718043.2:c.3394C>G XP_006718106.1:p.Leu1132Val
XM_011540292.1:c.3370C>G XP_011538594.1:p.Leu1124Val
XM_017016833.1:c.3418C>G XP_016872322.1:p.Leu1140Val
XM_017016834.2:c.3340C>G XP_016872323.1:p.Leu1114Val
XM_024448236.1:c.2218C>G XP_024304004.1:p.Leu740Val
XR_946029.1:n.1804-147G>C