Canonical Allele Identifier: CA215365

Gene: MYPN

Linked Data

• ClinVar Variation Id: 31829
• ClinVar RCV Id: RCV000024522 ; RCV004018674
• dbSNP Id: rs143338091
• ExAC: 10:69926290 G / A
• gnomAD v2: 10-69926290-G-A
• gnomAD v3: 10-68166533-G-A
• gnomAD v4: 10-68166533-G-A
• COSMIC: COSM1745845 ; COSM3931099 ; COSM3931100
• MyVariant Identifiers: chr10:g.69926290G>A (hg19) ; chr10:g.68166533G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.68166533G>A , CM000672.2:g.68166533G>A	GRCh38
NC_000010.10:g.69926290G>A , CM000672.1:g.69926290G>A	GRCh37
NC_000010.9:g.69596296G>A	NCBI36
NG_032118.1:g.65417G>A , LRG_410:g.65417G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354393.7:c.1015G>A	ENSP00000346369.2:p.Glu339Lys
ENST00000373675.4:c.1840G>A	ENSP00000362779.4:p.Glu614Lys
ENST00000540630.6:c.1894G>A	ENSP00000441668.3:p.Glu632Lys
ENST00000613327.5:c.1840G>A	ENSP00000480757.2:p.Glu614Lys
ENST00000687572.1:c.718G>A	ENSP00000510427.1:p.Glu240Lys
ENST00000688812.1:c.1816G>A	ENSP00000510658.1:p.Glu606Lys
ENST00000690544.1:c.*1111G>A	ENSP00000508989.1:n.*1111G>A
ENST00000358913.10:c.1840G>A MANE Select	ENSP00000351790.5:p.Glu614Lys
ENST00000354393.6:c.1015G>A	ENSP00000346369.2:p.Glu339Lys
ENST00000358913.9:c.1840G>A	ENSP00000351790.5:p.Glu614Lys
ENST00000540630.5:c.1840G>A	ENSP00000441668.2:p.Glu614Lys
ENST00000613327.4:c.958G>A	ENSP00000480757.1:p.Glu320Lys
NM_001256267.1:c.1840G>A	NP_001243196.1:p.Glu614Lys
NM_001256268.1:c.958G>A	NP_001243197.1:p.Glu320Lys
NM_032578.3:c.1840G>A , LRG_410t1:c.1840G>A	NP_115967.2:p.Glu614Lys
NR_045662.3:n.1267G>A
NR_045663.3:n.2108G>A
XM_006718043.2:c.1894G>A	XP_006718106.1:p.Glu632Lys
XM_011540292.1:c.1870G>A	XP_011538594.1:p.Glu624Lys
XM_017016833.1:c.1918G>A	XP_016872322.1:p.Glu640Lys
XM_017016834.2:c.1840G>A	XP_016872323.1:p.Glu614Lys
XM_024448236.1:c.718G>A	XP_024304004.1:p.Glu240Lys
NR_045662.4:n.1377G>A
NR_045663.4:n.2053G>A
NM_001256267.2:c.1840G>A	NP_001243196.1:p.Glu614Lys
NM_001256268.2:c.958G>A	NP_001243197.1:p.Glu320Lys
NM_032578.4:c.1840G>A MANE Select	NP_115967.2:p.Glu614Lys