Canonical Allele Identifier: CA376858915
Gene: MYPN HGNC NCBI
ClinVar RCV:
ClinVar Variation:
gnomAD v4:
MyVariant.info:
Revel Score:

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.68199384C>T , CM000672.2:g.68199384C>T GRCh38
NC_000010.10:g.69959141C>T , CM000672.1:g.69959141C>T GRCh37
NC_000010.9:g.69629147C>T NCBI36
NG_032118.1:g.98268C>T , LRG_410:g.98268C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000354393.7:c.2477C>T ENSP00000346369.2:p.Pro826Leu
ENST00000540630.6:c.3356C>T ENSP00000441668.3:p.Pro1119Leu
ENST00000613327.5:c.3302C>T ENSP00000480757.2:p.Pro1101Leu
ENST00000688812.1:c.*565C>T ENSP00000510658.1:n.*565C>T
ENST00000690544.1:c.*2573C>T ENSP00000508989.1:n.*2573C>T
ENST00000358913.10:c.3302C>T MANE Select ENSP00000351790.5:p.Pro1101Leu
ENST00000354393.6:c.2477C>T ENSP00000346369.2:p.Pro826Leu
ENST00000358913.9:c.3302C>T ENSP00000351790.5:p.Pro1101Leu
ENST00000540630.5:c.3302C>T ENSP00000441668.2:p.Pro1101Leu
ENST00000613327.4:c.2420C>T ENSP00000480757.1:p.Pro807Leu
NM_001256267.1:c.3302C>T NP_001243196.1:p.Pro1101Leu
NM_001256268.1:c.2420C>T NP_001243197.1:p.Pro807Leu
NM_032578.3:c.3302C>T , LRG_410t1:c.3302C>T NP_115967.2:p.Pro1101Leu
NR_045662.3:n.2729C>T
NR_045663.3:n.3431C>T
XM_006718043.2:c.3356C>T XP_006718106.1:p.Pro1119Leu
XM_011540292.1:c.3332C>T XP_011538594.1:p.Pro1111Leu
XR_946029.1:n.1804-109G>A
XM_017016833.1:c.3380C>T XP_016872322.1:p.Pro1127Leu
XM_017016834.2:c.3302C>T XP_016872323.1:p.Pro1101Leu
XM_024448236.1:c.2180C>T XP_024304004.1:p.Pro727Leu
NR_045662.4:n.2839C>T
NR_045663.4:n.3376C>T
NM_001256267.2:c.3302C>T NP_001243196.1:p.Pro1101Leu
NM_001256268.2:c.2420C>T NP_001243197.1:p.Pro807Leu
NM_032578.4:c.3302C>T MANE Select NP_115967.2:p.Pro1101Leu