Canonical Allele Identifier: CA201356

Gene: MYPN

Linked Data

• ClinVar Variation Id: 194792
• ClinVar RCV Id: RCV000175237 ; RCV000241815 ; RCV000532775 ; RCV001594865 ; RCV003947482
• dbSNP Id: rs144488384
• ExAC: 10:69959256 C / T
• gnomAD v2: 10-69959256-C-T
• gnomAD v3: 10-68199499-C-T
• gnomAD v4: 10-68199499-C-T
• COSMIC: COSM919669
• MyVariant Identifiers: chr10:g.69959256C>T (hg19) ; chr10:g.68199499C>T (hg38)
• PubMed: PMID:22286171

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.68199499C>T , CM000672.2:g.68199499C>T	GRCh38
NC_000010.10:g.69959256C>T , CM000672.1:g.69959256C>T	GRCh37
NC_000010.9:g.69629262C>T	NCBI36
NG_032118.1:g.98383C>T , LRG_410:g.98383C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354393.7:c.2592C>T	ENSP00000346369.2:p.Arg864=
ENST00000540630.6:c.3471C>T	ENSP00000441668.3:p.Arg1157=
ENST00000613327.5:c.3417C>T	ENSP00000480757.2:p.Arg1139=
ENST00000688812.1:c.*680C>T	ENSP00000510658.1:n.*680C>T
ENST00000690544.1:c.*2688C>T	ENSP00000508989.1:n.*2688C>T
ENST00000358913.10:c.3417C>T MANE Select	ENSP00000351790.5:p.Arg1139=
ENST00000354393.6:c.2592C>T	ENSP00000346369.2:p.Arg864=
ENST00000358913.9:c.3417C>T	ENSP00000351790.5:p.Arg1139=
ENST00000540630.5:c.3417C>T	ENSP00000441668.2:p.Arg1139=
ENST00000613327.4:c.2535C>T	ENSP00000480757.1:p.Arg845=
NM_001256267.1:c.3417C>T	NP_001243196.1:p.Arg1139=
NM_001256268.1:c.2535C>T	NP_001243197.1:p.Arg845=
NM_032578.3:c.3417C>T , LRG_410t1:c.3417C>T	NP_115967.2:p.Arg1139=
NR_045662.3:n.2844C>T
NR_045663.3:n.3546C>T
XM_006718043.2:c.3471C>T	XP_006718106.1:p.Arg1157=
XM_011540292.1:c.3447C>T	XP_011538594.1:p.Arg1149=
XR_946029.1:n.1804-224G>A
XM_017016833.1:c.3495C>T	XP_016872322.1:p.Arg1165=
XM_017016834.2:c.3417C>T	XP_016872323.1:p.Arg1139=
XM_024448236.1:c.2295C>T	XP_024304004.1:p.Arg765=
NR_045662.4:n.2954C>T
NR_045663.4:n.3491C>T
NM_001256267.2:c.3417C>T	NP_001243196.1:p.Arg1139=
NM_001256268.2:c.2535C>T	NP_001243197.1:p.Arg845=
NM_032578.4:c.3417C>T MANE Select	NP_115967.2:p.Arg1139=