Canonical Allele Identifier: CA5522632

Gene: MYPN

Linked Data

• ClinVar Variation Id: 1508532
• ClinVar RCV Id: RCV002040441
• dbSNP Id: rs761571128
• ExAC: 10:69926099 C / T
• gnomAD v2: 10-69926099-C-T
• gnomAD v3: 10-68166342-C-T
• gnomAD v4: 10-68166342-C-T
• MyVariant Identifiers: chr10:g.69926099C>T (hg19) ; chr10:g.68166342C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.68166342C>T , CM000672.2:g.68166342C>T	GRCh38
NC_000010.10:g.69926099C>T , CM000672.1:g.69926099C>T	GRCh37
NC_000010.9:g.69596105C>T	NCBI36
NG_032118.1:g.65226C>T , LRG_410:g.65226C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354393.7:c.824C>T	ENSP00000346369.2:p.Thr275Ile
ENST00000373675.4:c.1649C>T	ENSP00000362779.4:p.Thr550Ile
ENST00000540630.6:c.1703C>T	ENSP00000441668.3:p.Thr568Ile
ENST00000613327.5:c.1649C>T	ENSP00000480757.2:p.Thr550Ile
ENST00000687572.1:c.527C>T	ENSP00000510427.1:p.Thr176Ile
ENST00000687705.1:c.*1898C>T	ENSP00000509639.1:n.*1898C>T
ENST00000688812.1:c.1625C>T	ENSP00000510658.1:p.Thr542Ile
ENST00000689002.1:n.701C>T
ENST00000690544.1:c.*920C>T	ENSP00000508989.1:n.*920C>T
ENST00000358913.10:c.1649C>T MANE Select	ENSP00000351790.5:p.Thr550Ile
ENST00000354393.6:c.824C>T	ENSP00000346369.2:p.Thr275Ile
ENST00000358913.9:c.1649C>T	ENSP00000351790.5:p.Thr550Ile
ENST00000540630.5:c.1649C>T	ENSP00000441668.2:p.Thr550Ile
ENST00000613327.4:c.767C>T	ENSP00000480757.1:p.Thr256Ile
NM_001256267.1:c.1649C>T	NP_001243196.1:p.Thr550Ile
NM_001256268.1:c.767C>T	NP_001243197.1:p.Thr256Ile
NM_032578.3:c.1649C>T , LRG_410t1:c.1649C>T	NP_115967.2:p.Thr550Ile
NR_045662.3:n.1076C>T
NR_045663.3:n.1917C>T
XM_006718043.2:c.1703C>T	XP_006718106.1:p.Thr568Ile
XM_011540292.1:c.1679C>T	XP_011538594.1:p.Thr560Ile
XM_017016833.1:c.1727C>T	XP_016872322.1:p.Thr576Ile
XM_017016834.2:c.1649C>T	XP_016872323.1:p.Thr550Ile
XM_024448236.1:c.527C>T	XP_024304004.1:p.Thr176Ile
NR_045662.4:n.1186C>T
NR_045663.4:n.1862C>T
NM_001256267.2:c.1649C>T	NP_001243196.1:p.Thr550Ile
NM_001256268.2:c.767C>T	NP_001243197.1:p.Thr256Ile
NM_032578.4:c.1649C>T MANE Select	NP_115967.2:p.Thr550Ile