Canonical Allele Identifier: CA143766

Gene: MYPN

Linked Data

• ClinVar Variation Id: 31792
• ClinVar RCV Id: RCV000024485 ; RCV000043543 ; RCV000219549 ; RCV000621596
• dbSNP Id: rs71534280
• ExAC: 10:69961675 G / A
• gnomAD v2: 10-69961675-G-A
• gnomAD v3: 10-68201918-G-A
• gnomAD v4: 10-68201918-G-A
• MyVariant Identifiers: chr10:g.69961675G>A (hg19) ; chr10:g.68201918G>A (hg38)
• PubMed: PMID:18006477 ; PMID:22337857 ; PMID:22892539 ; PMID:23299917 ; PMID:27896284

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.68201918G>A , CM000672.2:g.68201918G>A	GRCh38
NC_000010.10:g.69961675G>A , CM000672.1:g.69961675G>A	GRCh37
NC_000010.9:g.69631681G>A	NCBI36
NG_032118.1:g.100802G>A , LRG_410:g.100802G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000354393.7:c.2758G>A	ENSP00000346369.2:p.Val920Met
ENST00000540630.6:c.3637G>A	ENSP00000441668.3:p.Val1213Met
ENST00000613327.5:c.3583G>A	ENSP00000480757.2:p.Val1195Met
ENST00000688812.1:c.*846G>A	ENSP00000510658.1:n.*846G>A
ENST00000690544.1:c.*2854G>A	ENSP00000508989.1:n.*2854G>A
ENST00000358913.10:c.3583G>A MANE Select	ENSP00000351790.5:p.Val1195Met
ENST00000354393.6:c.2758G>A	ENSP00000346369.2:p.Val920Met
ENST00000358913.9:c.3583G>A	ENSP00000351790.5:p.Val1195Met
ENST00000540630.5:c.3583G>A	ENSP00000441668.2:p.Val1195Met
ENST00000613327.4:c.2701G>A	ENSP00000480757.1:p.Val901Met
NM_001256267.1:c.3583G>A	NP_001243196.1:p.Val1195Met
NM_001256268.1:c.2701G>A	NP_001243197.1:p.Val901Met
NM_032578.3:c.3583G>A , LRG_410t1:c.3583G>A	NP_115967.2:p.Val1195Met
NR_045662.3:n.3010G>A
NR_045663.3:n.3712G>A
XM_006718043.2:c.3637G>A	XP_006718106.1:p.Val1213Met
XM_011540292.1:c.3613G>A	XP_011538594.1:p.Val1205Met
XR_946029.1:n.1803+2113C>T
XM_017016833.1:c.3661G>A	XP_016872322.1:p.Val1221Met
XM_017016834.2:c.3583G>A	XP_016872323.1:p.Val1195Met
XM_024448236.1:c.2461G>A	XP_024304004.1:p.Val821Met
NR_045662.4:n.3120G>A
NR_045663.4:n.3657G>A
NM_001256267.2:c.3583G>A	NP_001243196.1:p.Val1195Met
NM_001256268.2:c.2701G>A	NP_001243197.1:p.Val901Met
NM_032578.4:c.3583G>A MANE Select	NP_115967.2:p.Val1195Met