Canonical Allele Identifier: CA376858973
Gene: MYPN HGNC NCBI
MyVariant.info:
Revel Score:

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.68199402T>C , CM000672.2:g.68199402T>C GRCh38
NC_000010.10:g.69959159T>C , CM000672.1:g.69959159T>C GRCh37
NC_000010.9:g.69629165T>C NCBI36
NG_032118.1:g.98286T>C , LRG_410:g.98286T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000354393.7:c.2495T>C ENSP00000346369.2:p.Leu832Pro
ENST00000540630.6:c.3374T>C ENSP00000441668.3:p.Leu1125Pro
ENST00000613327.5:c.3320T>C ENSP00000480757.2:p.Leu1107Pro
ENST00000688812.1:c.*583T>C ENSP00000510658.1:n.*583T>C
ENST00000690544.1:c.*2591T>C ENSP00000508989.1:n.*2591T>C
ENST00000358913.10:c.3320T>C MANE Select ENSP00000351790.5:p.Leu1107Pro
ENST00000354393.6:c.2495T>C ENSP00000346369.2:p.Leu832Pro
ENST00000358913.9:c.3320T>C ENSP00000351790.5:p.Leu1107Pro
ENST00000540630.5:c.3320T>C ENSP00000441668.2:p.Leu1107Pro
ENST00000613327.4:c.2438T>C ENSP00000480757.1:p.Leu813Pro
NM_001256267.1:c.3320T>C NP_001243196.1:p.Leu1107Pro
NM_001256268.1:c.2438T>C NP_001243197.1:p.Leu813Pro
NM_032578.3:c.3320T>C , LRG_410t1:c.3320T>C NP_115967.2:p.Leu1107Pro
NR_045662.3:n.2747T>C
NR_045663.3:n.3449T>C
XM_006718043.2:c.3374T>C XP_006718106.1:p.Leu1125Pro
XM_011540292.1:c.3350T>C XP_011538594.1:p.Leu1117Pro
XR_946029.1:n.1804-127A>G
XM_017016833.1:c.3398T>C XP_016872322.1:p.Leu1133Pro
XM_017016834.2:c.3320T>C XP_016872323.1:p.Leu1107Pro
XM_024448236.1:c.2198T>C XP_024304004.1:p.Leu733Pro
NR_045662.4:n.2857T>C
NR_045663.4:n.3394T>C
NM_001256267.2:c.3320T>C NP_001243196.1:p.Leu1107Pro
NM_001256268.2:c.2438T>C NP_001243197.1:p.Leu813Pro
NM_032578.4:c.3320T>C MANE Select NP_115967.2:p.Leu1107Pro