Canonical Allele Identifier: CA5522693

Gene: MYPN

Linked Data

• ClinVar Variation Id: 477744
• ClinVar RCV Id: RCV000535775 ; RCV002420543 ; RCV001704684
• dbSNP Id: rs548318517
• ExAC: 10:69926402 C / A
• gnomAD v2: 10-69926402-C-A
• gnomAD v3: 10-68166645-C-A
• gnomAD v4: 10-68166645-C-A
• MyVariant Identifiers: chr10:g.69926402C>A (hg19) ; chr10:g.68166645C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.68166645C>A , CM000672.2:g.68166645C>A	GRCh38
NC_000010.10:g.69926402C>A , CM000672.1:g.69926402C>A	GRCh37
NC_000010.9:g.69596408C>A	NCBI36
NG_032118.1:g.65529C>A , LRG_410:g.65529C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354393.7:c.1127C>A	ENSP00000346369.2:p.Pro376Gln
ENST00000373675.4:c.1952C>A	ENSP00000362779.4:p.Pro651Gln
ENST00000540630.6:c.2006C>A	ENSP00000441668.3:p.Pro669Gln
ENST00000613327.5:c.1952C>A	ENSP00000480757.2:p.Pro651Gln
ENST00000687572.1:c.830C>A	ENSP00000510427.1:p.Pro277Gln
ENST00000688812.1:c.1928C>A	ENSP00000510658.1:p.Pro643Gln
ENST00000690544.1:c.*1223C>A	ENSP00000508989.1:n.*1223C>A
ENST00000358913.10:c.1952C>A MANE Select	ENSP00000351790.5:p.Pro651Gln
ENST00000354393.6:c.1127C>A	ENSP00000346369.2:p.Pro376Gln
ENST00000358913.9:c.1952C>A	ENSP00000351790.5:p.Pro651Gln
ENST00000540630.5:c.1952C>A	ENSP00000441668.2:p.Pro651Gln
ENST00000613327.4:c.1070C>A	ENSP00000480757.1:p.Pro357Gln
NM_001256267.1:c.1952C>A	NP_001243196.1:p.Pro651Gln
NM_001256268.1:c.1070C>A	NP_001243197.1:p.Pro357Gln
NM_032578.3:c.1952C>A , LRG_410t1:c.1952C>A	NP_115967.2:p.Pro651Gln
NR_045662.3:n.1379C>A
NR_045663.3:n.2220C>A
XM_006718043.2:c.2006C>A	XP_006718106.1:p.Pro669Gln
XM_011540292.1:c.1982C>A	XP_011538594.1:p.Pro661Gln
XM_017016833.1:c.2030C>A	XP_016872322.1:p.Pro677Gln
XM_017016834.2:c.1952C>A	XP_016872323.1:p.Pro651Gln
XM_024448236.1:c.830C>A	XP_024304004.1:p.Pro277Gln
NR_045662.4:n.1489C>A
NR_045663.4:n.2165C>A
NM_001256267.2:c.1952C>A	NP_001243196.1:p.Pro651Gln
NM_001256268.2:c.1070C>A	NP_001243197.1:p.Pro357Gln
NM_032578.4:c.1952C>A MANE Select	NP_115967.2:p.Pro651Gln