Canonical Allele Identifier: CA376859039
Community Standard Title: NM_032578.4(MYPN):c.3341T>C (p.Leu1114Pro)
Gene: MYPN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.68199423T>C , CM000672.2:g.68199423T>C GRCh38
NC_000010.10:g.69959180T>C , CM000672.1:g.69959180T>C GRCh37
NC_000010.9:g.69629186T>C NCBI36
NG_032118.1:g.98307T>C , LRG_410:g.98307T>C

Transcript Alleles

HGVS Amino-acid Change
NM_032578.4:c.3341T>C MANE Select NP_115967.2:p.Leu1114Pro
ENST00000358913.10:c.3341T>C MANE Select ENSP00000351790.5:p.Leu1114Pro
NM_001256267.1:c.3341T>C NP_001243196.1:p.Leu1114Pro
NM_001256267.2:c.3341T>C NP_001243196.1:p.Leu1114Pro
NM_001256268.1:c.2459T>C NP_001243197.1:p.Leu820Pro
NM_001256268.2:c.2459T>C NP_001243197.1:p.Leu820Pro
NM_032578.3:c.3341T>C , LRG_410t1:c.3341T>C NP_115967.2:p.Leu1114Pro
NR_045662.3:n.2768T>C
NR_045662.4:n.2878T>C
NR_045663.3:n.3470T>C
NR_045663.4:n.3415T>C
ENST00000354393.6:c.2516T>C ENSP00000346369.2:p.Leu839Pro
ENST00000354393.7:c.2516T>C ENSP00000346369.2:p.Leu839Pro
ENST00000358913.9:c.3341T>C ENSP00000351790.5:p.Leu1114Pro
ENST00000540630.5:c.3341T>C ENSP00000441668.2:p.Leu1114Pro
ENST00000540630.6:c.3395T>C ENSP00000441668.3:p.Leu1132Pro
ENST00000613327.4:c.2459T>C ENSP00000480757.1:p.Leu820Pro
ENST00000613327.5:c.3341T>C ENSP00000480757.2:p.Leu1114Pro
ENST00000688812.1:c.*604T>C ENSP00000510658.1:n.*604T>C
ENST00000690544.1:c.*2612T>C ENSP00000508989.1:n.*2612T>C
XM_006718043.2:c.3395T>C XP_006718106.1:p.Leu1132Pro
XM_011540292.1:c.3371T>C XP_011538594.1:p.Leu1124Pro
XM_017016833.1:c.3419T>C XP_016872322.1:p.Leu1140Pro
XM_017016834.2:c.3341T>C XP_016872323.1:p.Leu1114Pro
XM_024448236.1:c.2219T>C XP_024304004.1:p.Leu740Pro
XR_946029.1:n.1804-148A>G