Canonical Allele Identifier: CA376858988
Gene: MYPN HGNC NCBI
MyVariant.info:
Revel Score:

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.68199408A>C , CM000672.2:g.68199408A>C GRCh38
NC_000010.10:g.69959165A>C , CM000672.1:g.69959165A>C GRCh37
NC_000010.9:g.69629171A>C NCBI36
NG_032118.1:g.98292A>C , LRG_410:g.98292A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000354393.7:c.2501A>C ENSP00000346369.2:p.Asn834Thr
ENST00000540630.6:c.3380A>C ENSP00000441668.3:p.Asn1127Thr
ENST00000613327.5:c.3326A>C ENSP00000480757.2:p.Asn1109Thr
ENST00000688812.1:c.*589A>C ENSP00000510658.1:n.*589A>C
ENST00000690544.1:c.*2597A>C ENSP00000508989.1:n.*2597A>C
ENST00000358913.10:c.3326A>C MANE Select ENSP00000351790.5:p.Asn1109Thr
ENST00000354393.6:c.2501A>C ENSP00000346369.2:p.Asn834Thr
ENST00000358913.9:c.3326A>C ENSP00000351790.5:p.Asn1109Thr
ENST00000540630.5:c.3326A>C ENSP00000441668.2:p.Asn1109Thr
ENST00000613327.4:c.2444A>C ENSP00000480757.1:p.Asn815Thr
NM_001256267.1:c.3326A>C NP_001243196.1:p.Asn1109Thr
NM_001256268.1:c.2444A>C NP_001243197.1:p.Asn815Thr
NM_032578.3:c.3326A>C , LRG_410t1:c.3326A>C NP_115967.2:p.Asn1109Thr
NR_045662.3:n.2753A>C
NR_045663.3:n.3455A>C
XM_006718043.2:c.3380A>C XP_006718106.1:p.Asn1127Thr
XM_011540292.1:c.3356A>C XP_011538594.1:p.Asn1119Thr
XR_946029.1:n.1804-133T>G
XM_017016833.1:c.3404A>C XP_016872322.1:p.Asn1135Thr
XM_017016834.2:c.3326A>C XP_016872323.1:p.Asn1109Thr
XM_024448236.1:c.2204A>C XP_024304004.1:p.Asn735Thr
NR_045662.4:n.2863A>C
NR_045663.4:n.3400A>C
NM_001256267.2:c.3326A>C NP_001243196.1:p.Asn1109Thr
NM_001256268.2:c.2444A>C NP_001243197.1:p.Asn815Thr
NM_032578.4:c.3326A>C MANE Select NP_115967.2:p.Asn1109Thr