Canonical Allele Identifier: CA200020

Gene: MYPN

Linked Data

• ClinVar Variation Id: 31804
• ClinVar RCV Id: RCV000024497 ; RCV000172766 ; RCV000252462 ; RCV001079911 ; RCV001778668
• dbSNP Id: rs10823148
• ExAC: 10:69926334 C / G
• gnomAD v2: 10-69926334-C-G
• gnomAD v3: 10-68166577-C-G
• gnomAD v4: 10-68166577-C-G
• MyVariant Identifiers: chr10:g.69926334C>G (hg19) ; chr10:g.68166577C>G (hg38)
• PubMed: PMID:18006477 ; PMID:22286171 ; PMID:23861362

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.68166577C>G , CM000672.2:g.68166577C>G	GRCh38
NC_000010.10:g.69926334C>G , CM000672.1:g.69926334C>G	GRCh37
NC_000010.9:g.69596340C>G	NCBI36
NG_032118.1:g.65461C>G , LRG_410:g.65461C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354393.7:c.1059C>G	ENSP00000346369.2:p.Phe353Leu
ENST00000373675.4:c.1884C>G	ENSP00000362779.4:p.Phe628Leu
ENST00000540630.6:c.1938C>G	ENSP00000441668.3:p.Phe646Leu
ENST00000613327.5:c.1884C>G	ENSP00000480757.2:p.Phe628Leu
ENST00000687572.1:c.762C>G	ENSP00000510427.1:p.Phe254Leu
ENST00000688812.1:c.1860C>G	ENSP00000510658.1:p.Phe620Leu
ENST00000690544.1:c.*1155C>G	ENSP00000508989.1:n.*1155C>G
ENST00000358913.10:c.1884C>G MANE Select	ENSP00000351790.5:p.Phe628Leu
ENST00000354393.6:c.1059C>G	ENSP00000346369.2:p.Phe353Leu
ENST00000358913.9:c.1884C>G	ENSP00000351790.5:p.Phe628Leu
ENST00000540630.5:c.1884C>G	ENSP00000441668.2:p.Phe628Leu
ENST00000613327.4:c.1002C>G	ENSP00000480757.1:p.Phe334Leu
NM_001256267.1:c.1884C>G	NP_001243196.1:p.Phe628Leu
NM_001256268.1:c.1002C>G	NP_001243197.1:p.Phe334Leu
NM_032578.3:c.1884C>G , LRG_410t1:c.1884C>G	NP_115967.2:p.Phe628Leu
NR_045662.3:n.1311C>G
NR_045663.3:n.2152C>G
XM_006718043.2:c.1938C>G	XP_006718106.1:p.Phe646Leu
XM_011540292.1:c.1914C>G	XP_011538594.1:p.Phe638Leu
XM_017016833.1:c.1962C>G	XP_016872322.1:p.Phe654Leu
XM_017016834.2:c.1884C>G	XP_016872323.1:p.Phe628Leu
XM_024448236.1:c.762C>G	XP_024304004.1:p.Phe254Leu
NR_045662.4:n.1421C>G
NR_045663.4:n.2097C>G
NM_001256267.2:c.1884C>G	NP_001243196.1:p.Phe628Leu
NM_001256268.2:c.1002C>G	NP_001243197.1:p.Phe334Leu
NM_032578.4:c.1884C>G MANE Select	NP_115967.2:p.Phe628Leu