Canonical Allele Identifier: CA237454

Gene: MYPN

Linked Data

• ClinVar Variation Id: 191751
• ClinVar RCV Id: RCV000172073 ; RCV000655038 ; RCV002408748
• dbSNP Id: rs144031245
• ExAC: 10:69926308 A / G
• gnomAD v2: 10-69926308-A-G
• gnomAD v3: 10-68166551-A-G
• gnomAD v4: 10-68166551-A-G
• MyVariant Identifiers: chr10:g.69926308A>G (hg19) ; chr10:g.68166551A>G (hg38)
• PubMed: PMID:23861362

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.68166551A>G , CM000672.2:g.68166551A>G	GRCh38
NC_000010.10:g.69926308A>G , CM000672.1:g.69926308A>G	GRCh37
NC_000010.9:g.69596314A>G	NCBI36
NG_032118.1:g.65435A>G , LRG_410:g.65435A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354393.7:c.1033A>G	ENSP00000346369.2:p.Thr345Ala
ENST00000373675.4:c.1858A>G	ENSP00000362779.4:p.Thr620Ala
ENST00000540630.6:c.1912A>G	ENSP00000441668.3:p.Thr638Ala
ENST00000613327.5:c.1858A>G	ENSP00000480757.2:p.Thr620Ala
ENST00000687572.1:c.736A>G	ENSP00000510427.1:p.Thr246Ala
ENST00000688812.1:c.1834A>G	ENSP00000510658.1:p.Thr612Ala
ENST00000690544.1:c.*1129A>G	ENSP00000508989.1:n.*1129A>G
ENST00000358913.10:c.1858A>G MANE Select	ENSP00000351790.5:p.Thr620Ala
ENST00000354393.6:c.1033A>G	ENSP00000346369.2:p.Thr345Ala
ENST00000358913.9:c.1858A>G	ENSP00000351790.5:p.Thr620Ala
ENST00000540630.5:c.1858A>G	ENSP00000441668.2:p.Thr620Ala
ENST00000613327.4:c.976A>G	ENSP00000480757.1:p.Thr326Ala
NM_001256267.1:c.1858A>G	NP_001243196.1:p.Thr620Ala
NM_001256268.1:c.976A>G	NP_001243197.1:p.Thr326Ala
NM_032578.3:c.1858A>G , LRG_410t1:c.1858A>G	NP_115967.2:p.Thr620Ala
NR_045662.3:n.1285A>G
NR_045663.3:n.2126A>G
XM_006718043.2:c.1912A>G	XP_006718106.1:p.Thr638Ala
XM_011540292.1:c.1888A>G	XP_011538594.1:p.Thr630Ala
XM_017016833.1:c.1936A>G	XP_016872322.1:p.Thr646Ala
XM_017016834.2:c.1858A>G	XP_016872323.1:p.Thr620Ala
XM_024448236.1:c.736A>G	XP_024304004.1:p.Thr246Ala
NR_045662.4:n.1395A>G
NR_045663.4:n.2071A>G
NM_001256267.2:c.1858A>G	NP_001243196.1:p.Thr620Ala
NM_001256268.2:c.976A>G	NP_001243197.1:p.Thr326Ala
NM_032578.4:c.1858A>G MANE Select	NP_115967.2:p.Thr620Ala