Canonical Allele Identifier: CA5522647

Gene: MYPN

Linked Data

• ClinVar Variation Id: 509906
• ClinVar RCV Id: RCV000602893 ; RCV000607769 ; RCV000866899 ; RCV002404640 ; RCV003917914
• dbSNP Id: rs143213775
• ExAC: 10:69926175 A / G
• gnomAD v2: 10-69926175-A-G
• gnomAD v3: 10-68166418-A-G
• gnomAD v4: 10-68166418-A-G
• MyVariant Identifiers: chr10:g.69926175A>G (hg19) ; chr10:g.68166418A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.68166418A>G , CM000672.2:g.68166418A>G	GRCh38
NC_000010.10:g.69926175A>G , CM000672.1:g.69926175A>G	GRCh37
NC_000010.9:g.69596181A>G	NCBI36
NG_032118.1:g.65302A>G , LRG_410:g.65302A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000354393.7:c.900A>G	ENSP00000346369.2:p.Lys300=
ENST00000373675.4:c.1725A>G	ENSP00000362779.4:p.Lys575=
ENST00000540630.6:c.1779A>G	ENSP00000441668.3:p.Lys593=
ENST00000613327.5:c.1725A>G	ENSP00000480757.2:p.Lys575=
ENST00000687572.1:c.603A>G	ENSP00000510427.1:p.Lys201=
ENST00000688812.1:c.1701A>G	ENSP00000510658.1:p.Lys567=
ENST00000689002.1:n.777A>G
ENST00000690544.1:c.*996A>G	ENSP00000508989.1:n.*996A>G
ENST00000358913.10:c.1725A>G MANE Select	ENSP00000351790.5:p.Lys575=
ENST00000354393.6:c.900A>G	ENSP00000346369.2:p.Lys300=
ENST00000358913.9:c.1725A>G	ENSP00000351790.5:p.Lys575=
ENST00000540630.5:c.1725A>G	ENSP00000441668.2:p.Lys575=
ENST00000613327.4:c.843A>G	ENSP00000480757.1:p.Lys281=
NM_001256267.1:c.1725A>G	NP_001243196.1:p.Lys575=
NM_001256268.1:c.843A>G	NP_001243197.1:p.Lys281=
NM_032578.3:c.1725A>G , LRG_410t1:c.1725A>G	NP_115967.2:p.Lys575=
NR_045662.3:n.1152A>G
NR_045663.3:n.1993A>G
XM_006718043.2:c.1779A>G	XP_006718106.1:p.Lys593=
XM_011540292.1:c.1755A>G	XP_011538594.1:p.Lys585=
XM_017016833.1:c.1803A>G	XP_016872322.1:p.Lys601=
XM_017016834.2:c.1725A>G	XP_016872323.1:p.Lys575=
XM_024448236.1:c.603A>G	XP_024304004.1:p.Lys201=
NR_045662.4:n.1262A>G
NR_045663.4:n.1938A>G
NM_001256267.2:c.1725A>G	NP_001243196.1:p.Lys575=
NM_001256268.2:c.843A>G	NP_001243197.1:p.Lys281=
NM_032578.4:c.1725A>G MANE Select	NP_115967.2:p.Lys575=