Canonical Allele Identifier: CA5522650

Gene: MYPN

Linked Data

• ClinVar Variation Id: 1645881
• ClinVar RCV Id: RCV002136209 ; RCV002409580
• dbSNP Id: rs200760918
• ExAC: 10:69926199 G / A
• gnomAD v2: 10-69926199-G-A
• gnomAD v3: 10-68166442-G-A
• gnomAD v4: 10-68166442-G-A
• MyVariant Identifiers: chr10:g.69926199G>A (hg19) ; chr10:g.68166442G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.68166442G>A , CM000672.2:g.68166442G>A	GRCh38
NC_000010.10:g.69926199G>A , CM000672.1:g.69926199G>A	GRCh37
NC_000010.9:g.69596205G>A	NCBI36
NG_032118.1:g.65326G>A , LRG_410:g.65326G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354393.7:c.924G>A	ENSP00000346369.2:p.Val308=
ENST00000373675.4:c.1749G>A	ENSP00000362779.4:p.Val583=
ENST00000540630.6:c.1803G>A	ENSP00000441668.3:p.Val601=
ENST00000613327.5:c.1749G>A	ENSP00000480757.2:p.Val583=
ENST00000687572.1:c.627G>A	ENSP00000510427.1:p.Val209=
ENST00000688812.1:c.1725G>A	ENSP00000510658.1:p.Val575=
ENST00000690544.1:c.*1020G>A	ENSP00000508989.1:n.*1020G>A
ENST00000358913.10:c.1749G>A MANE Select	ENSP00000351790.5:p.Val583=
ENST00000354393.6:c.924G>A	ENSP00000346369.2:p.Val308=
ENST00000358913.9:c.1749G>A	ENSP00000351790.5:p.Val583=
ENST00000540630.5:c.1749G>A	ENSP00000441668.2:p.Val583=
ENST00000613327.4:c.867G>A	ENSP00000480757.1:p.Val289=
NM_001256267.1:c.1749G>A	NP_001243196.1:p.Val583=
NM_001256268.1:c.867G>A	NP_001243197.1:p.Val289=
NM_032578.3:c.1749G>A , LRG_410t1:c.1749G>A	NP_115967.2:p.Val583=
NR_045662.3:n.1176G>A
NR_045663.3:n.2017G>A
XM_006718043.2:c.1803G>A	XP_006718106.1:p.Val601=
XM_011540292.1:c.1779G>A	XP_011538594.1:p.Val593=
XM_017016833.1:c.1827G>A	XP_016872322.1:p.Val609=
XM_017016834.2:c.1749G>A	XP_016872323.1:p.Val583=
XM_024448236.1:c.627G>A	XP_024304004.1:p.Val209=
NR_045662.4:n.1286G>A
NR_045663.4:n.1962G>A
NM_001256267.2:c.1749G>A	NP_001243196.1:p.Val583=
NM_001256268.2:c.867G>A	NP_001243197.1:p.Val289=
NM_032578.4:c.1749G>A MANE Select	NP_115967.2:p.Val583=