Canonical Allele Identifier: CA376840489

Gene: MYPN

Linked Data

• ClinVar Variation Id: 1049515
• ClinVar RCV Id: RCV001355724 ; RCV002413840
• dbSNP Id: rs1329226753
• gnomAD v4: 10-68166549-C-T
• MyVariant Identifiers: chr10:g.69926306C>T (hg19) ; chr10:g.68166549C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.68166549C>T , CM000672.2:g.68166549C>T	GRCh38
NC_000010.10:g.69926306C>T , CM000672.1:g.69926306C>T	GRCh37
NC_000010.9:g.69596312C>T	NCBI36
NG_032118.1:g.65433C>T , LRG_410:g.65433C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354393.7:c.1031C>T	ENSP00000346369.2:p.Thr344Ile
ENST00000373675.4:c.1856C>T	ENSP00000362779.4:p.Thr619Ile
ENST00000540630.6:c.1910C>T	ENSP00000441668.3:p.Thr637Ile
ENST00000613327.5:c.1856C>T	ENSP00000480757.2:p.Thr619Ile
ENST00000687572.1:c.734C>T	ENSP00000510427.1:p.Thr245Ile
ENST00000688812.1:c.1832C>T	ENSP00000510658.1:p.Thr611Ile
ENST00000690544.1:c.*1127C>T	ENSP00000508989.1:n.*1127C>T
ENST00000358913.10:c.1856C>T MANE Select	ENSP00000351790.5:p.Thr619Ile
ENST00000354393.6:c.1031C>T	ENSP00000346369.2:p.Thr344Ile
ENST00000358913.9:c.1856C>T	ENSP00000351790.5:p.Thr619Ile
ENST00000540630.5:c.1856C>T	ENSP00000441668.2:p.Thr619Ile
ENST00000613327.4:c.974C>T	ENSP00000480757.1:p.Thr325Ile
NM_001256267.1:c.1856C>T	NP_001243196.1:p.Thr619Ile
NM_001256268.1:c.974C>T	NP_001243197.1:p.Thr325Ile
NM_032578.3:c.1856C>T , LRG_410t1:c.1856C>T	NP_115967.2:p.Thr619Ile
NR_045662.3:n.1283C>T
NR_045663.3:n.2124C>T
XM_006718043.2:c.1910C>T	XP_006718106.1:p.Thr637Ile
XM_011540292.1:c.1886C>T	XP_011538594.1:p.Thr629Ile
XM_017016833.1:c.1934C>T	XP_016872322.1:p.Thr645Ile
XM_017016834.2:c.1856C>T	XP_016872323.1:p.Thr619Ile
XM_024448236.1:c.734C>T	XP_024304004.1:p.Thr245Ile
NR_045662.4:n.1393C>T
NR_045663.4:n.2069C>T
NM_001256267.2:c.1856C>T	NP_001243196.1:p.Thr619Ile
NM_001256268.2:c.974C>T	NP_001243197.1:p.Thr325Ile
NM_032578.4:c.1856C>T MANE Select	NP_115967.2:p.Thr619Ile