Canonical Allele Identifier: CA5522671

Gene: MYPN

Linked Data

• ClinVar Variation Id: 2010576
• ClinVar RCV Id: RCV002834086
• dbSNP Id: rs775808908
• ExAC: 10:69926317 A / T
• gnomAD v2: 10-69926317-A-T
• MyVariant Identifiers: chr10:g.69926317A>T (hg19) ; chr10:g.68166560A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.68166560A>T , CM000672.2:g.68166560A>T	GRCh38
NC_000010.10:g.69926317A>T , CM000672.1:g.69926317A>T	GRCh37
NC_000010.9:g.69596323A>T	NCBI36
NG_032118.1:g.65444A>T , LRG_410:g.65444A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354393.7:c.1042A>T	ENSP00000346369.2:p.Thr348Ser
ENST00000373675.4:c.1867A>T	ENSP00000362779.4:p.Thr623Ser
ENST00000540630.6:c.1921A>T	ENSP00000441668.3:p.Thr641Ser
ENST00000613327.5:c.1867A>T	ENSP00000480757.2:p.Thr623Ser
ENST00000687572.1:c.745A>T	ENSP00000510427.1:p.Thr249Ser
ENST00000688812.1:c.1843A>T	ENSP00000510658.1:p.Thr615Ser
ENST00000690544.1:c.*1138A>T	ENSP00000508989.1:n.*1138A>T
ENST00000358913.10:c.1867A>T MANE Select	ENSP00000351790.5:p.Thr623Ser
ENST00000354393.6:c.1042A>T	ENSP00000346369.2:p.Thr348Ser
ENST00000358913.9:c.1867A>T	ENSP00000351790.5:p.Thr623Ser
ENST00000540630.5:c.1867A>T	ENSP00000441668.2:p.Thr623Ser
ENST00000613327.4:c.985A>T	ENSP00000480757.1:p.Thr329Ser
NM_001256267.1:c.1867A>T	NP_001243196.1:p.Thr623Ser
NM_001256268.1:c.985A>T	NP_001243197.1:p.Thr329Ser
NM_032578.3:c.1867A>T , LRG_410t1:c.1867A>T	NP_115967.2:p.Thr623Ser
NR_045662.3:n.1294A>T
NR_045663.3:n.2135A>T
XM_006718043.2:c.1921A>T	XP_006718106.1:p.Thr641Ser
XM_011540292.1:c.1897A>T	XP_011538594.1:p.Thr633Ser
XM_017016833.1:c.1945A>T	XP_016872322.1:p.Thr649Ser
XM_017016834.2:c.1867A>T	XP_016872323.1:p.Thr623Ser
XM_024448236.1:c.745A>T	XP_024304004.1:p.Thr249Ser
NR_045662.4:n.1404A>T
NR_045663.4:n.2080A>T
NM_001256267.2:c.1867A>T	NP_001243196.1:p.Thr623Ser
NM_001256268.2:c.985A>T	NP_001243197.1:p.Thr329Ser
NM_032578.4:c.1867A>T MANE Select	NP_115967.2:p.Thr623Ser