Canonical Allele Identifier: CA237475

Gene: MYPN

Linked Data

• ClinVar Variation Id: 191759
• ClinVar RCV Id: RCV000172081 ; RCV000216203 ; RCV000230154 ; RCV000251155 ; RCV002470788 ; RCV002478552
• dbSNP Id: rs142877365
• ExAC: 10:69970082 G / A
• gnomAD v2: 10-69970082-G-A
• gnomAD v3: 10-68210325-G-A
• gnomAD v4: 10-68210325-G-A
• MyVariant Identifiers: chr10:g.69970082G>A (hg19) ; chr10:g.68210325G>A (hg38)
• PubMed: PMID:23861362

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.68210325G>A , CM000672.2:g.68210325G>A	GRCh38
NC_000010.10:g.69970082G>A , CM000672.1:g.69970082G>A	GRCh37
NC_000010.9:g.69640088G>A	NCBI36
NG_032118.1:g.109209G>A , LRG_410:g.109209G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354393.7:c.3008G>A	ENSP00000346369.2:p.Arg1003Gln
ENST00000540630.6:c.3887G>A	ENSP00000441668.3:p.Arg1296Gln
ENST00000613327.5:c.3833G>A	ENSP00000480757.2:p.Arg1278Gln
ENST00000688812.1:c.*1096G>A	ENSP00000510658.1:n.*1096G>A
ENST00000690544.1:c.*3104G>A	ENSP00000508989.1:n.*3104G>A
ENST00000358913.10:c.3833G>A MANE Select	ENSP00000351790.5:p.Arg1278Gln
ENST00000354393.6:c.3008G>A	ENSP00000346369.2:p.Arg1003Gln
ENST00000358913.9:c.3833G>A	ENSP00000351790.5:p.Arg1278Gln
ENST00000540630.5:c.3833G>A	ENSP00000441668.2:p.Arg1278Gln
ENST00000613327.4:c.2951G>A	ENSP00000480757.1:p.Arg984Gln
NM_001256267.1:c.3833G>A	NP_001243196.1:p.Arg1278Gln
NM_001256268.1:c.2951G>A	NP_001243197.1:p.Arg984Gln
NM_032578.3:c.3833G>A , LRG_410t1:c.3833G>A	NP_115967.2:p.Arg1278Gln
NR_045662.3:n.3260G>A
NR_045663.3:n.3962G>A
XM_006718043.2:c.3887G>A	XP_006718106.1:p.Arg1296Gln
XM_011540292.1:c.3863G>A	XP_011538594.1:p.Arg1288Gln
XR_946029.1:n.1574+4963C>T
XM_017016833.1:c.3911G>A	XP_016872322.1:p.Arg1304Gln
XM_017016834.2:c.3833G>A	XP_016872323.1:p.Arg1278Gln
XM_024448236.1:c.2711G>A	XP_024304004.1:p.Arg904Gln
NR_045662.4:n.3370G>A
NR_045663.4:n.3907G>A
NM_001256267.2:c.3833G>A	NP_001243196.1:p.Arg1278Gln
NM_001256268.2:c.2951G>A	NP_001243197.1:p.Arg984Gln
NM_032578.4:c.3833G>A MANE Select	NP_115967.2:p.Arg1278Gln