Canonical Allele Identifier: CA376838534
Gene: MYPN HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.68165812G>C , CM000672.2:g.68165812G>C GRCh38
NC_000010.10:g.69925569G>C , CM000672.1:g.69925569G>C GRCh37
NC_000010.9:g.69595575G>C NCBI36
NG_032118.1:g.64696G>C , LRG_410:g.64696G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000354393.7:c.769G>C ENSP00000346369.2:p.Val257Leu
ENST00000373675.4:c.1594G>C ENSP00000362779.4:p.Val532Leu
ENST00000540630.6:c.1648G>C ENSP00000441668.3:p.Val550Leu
ENST00000613327.5:c.1594G>C ENSP00000480757.2:p.Val532Leu
ENST00000687572.1:c.472G>C ENSP00000510427.1:p.Val158Leu
ENST00000687705.1:c.*1843G>C ENSP00000509639.1:n.*1843G>C
ENST00000688812.1:c.1570G>C ENSP00000510658.1:p.Val524Leu
ENST00000689002.1:n.646G>C
ENST00000690544.1:c.*865G>C ENSP00000508989.1:n.*865G>C
ENST00000358913.10:c.1594G>C MANE Select ENSP00000351790.5:p.Val532Leu
ENST00000354393.6:c.769G>C ENSP00000346369.2:p.Val257Leu
ENST00000358913.9:c.1594G>C ENSP00000351790.5:p.Val532Leu
ENST00000540630.5:c.1594G>C ENSP00000441668.2:p.Val532Leu
ENST00000613327.4:c.712G>C ENSP00000480757.1:p.Val238Leu
NM_001256267.1:c.1594G>C NP_001243196.1:p.Val532Leu
NM_001256268.1:c.712G>C NP_001243197.1:p.Val238Leu
NM_032578.3:c.1594G>C , LRG_410t1:c.1594G>C NP_115967.2:p.Val532Leu
NR_045662.3:n.1021G>C
NR_045663.3:n.1862G>C
XM_006718043.2:c.1648G>C XP_006718106.1:p.Val550Leu
XM_011540292.1:c.1624G>C XP_011538594.1:p.Val542Leu
XM_017016833.1:c.1672G>C XP_016872322.1:p.Val558Leu
XM_017016834.2:c.1594G>C XP_016872323.1:p.Val532Leu
XM_024448236.1:c.472G>C XP_024304004.1:p.Val158Leu
NR_045662.4:n.1131G>C
NR_045663.4:n.1807G>C
NM_001256267.2:c.1594G>C NP_001243196.1:p.Val532Leu
NM_001256268.2:c.712G>C NP_001243197.1:p.Val238Leu
NM_032578.4:c.1594G>C MANE Select NP_115967.2:p.Val532Leu