Canonical Allele Identifier: CA5522688

Gene: MYPN

Linked Data

• ClinVar Variation Id: 1015070
• ClinVar RCV Id: RCV001313888 ; RCV004034294
• dbSNP Id: rs761893396
• ExAC: 10:69926395 C / G
• gnomAD v2: 10-69926395-C-G
• gnomAD v3: 10-68166638-C-G
• gnomAD v4: 10-68166638-C-G
• MyVariant Identifiers: chr10:g.69926395C>G (hg19) ; chr10:g.68166638C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.68166638C>G , CM000672.2:g.68166638C>G	GRCh38
NC_000010.10:g.69926395C>G , CM000672.1:g.69926395C>G	GRCh37
NC_000010.9:g.69596401C>G	NCBI36
NG_032118.1:g.65522C>G , LRG_410:g.65522C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354393.7:c.1120C>G	ENSP00000346369.2:p.Pro374Ala
ENST00000373675.4:c.1945C>G	ENSP00000362779.4:p.Pro649Ala
ENST00000540630.6:c.1999C>G	ENSP00000441668.3:p.Pro667Ala
ENST00000613327.5:c.1945C>G	ENSP00000480757.2:p.Pro649Ala
ENST00000687572.1:c.823C>G	ENSP00000510427.1:p.Pro275Ala
ENST00000688812.1:c.1921C>G	ENSP00000510658.1:p.Pro641Ala
ENST00000690544.1:c.*1216C>G	ENSP00000508989.1:n.*1216C>G
ENST00000358913.10:c.1945C>G MANE Select	ENSP00000351790.5:p.Pro649Ala
ENST00000354393.6:c.1120C>G	ENSP00000346369.2:p.Pro374Ala
ENST00000358913.9:c.1945C>G	ENSP00000351790.5:p.Pro649Ala
ENST00000540630.5:c.1945C>G	ENSP00000441668.2:p.Pro649Ala
ENST00000613327.4:c.1063C>G	ENSP00000480757.1:p.Pro355Ala
NM_001256267.1:c.1945C>G	NP_001243196.1:p.Pro649Ala
NM_001256268.1:c.1063C>G	NP_001243197.1:p.Pro355Ala
NM_032578.3:c.1945C>G , LRG_410t1:c.1945C>G	NP_115967.2:p.Pro649Ala
NR_045662.3:n.1372C>G
NR_045663.3:n.2213C>G
XM_006718043.2:c.1999C>G	XP_006718106.1:p.Pro667Ala
XM_011540292.1:c.1975C>G	XP_011538594.1:p.Pro659Ala
XM_017016833.1:c.2023C>G	XP_016872322.1:p.Pro675Ala
XM_017016834.2:c.1945C>G	XP_016872323.1:p.Pro649Ala
XM_024448236.1:c.823C>G	XP_024304004.1:p.Pro275Ala
NR_045662.4:n.1482C>G
NR_045663.4:n.2158C>G
NM_001256267.2:c.1945C>G	NP_001243196.1:p.Pro649Ala
NM_001256268.2:c.1063C>G	NP_001243197.1:p.Pro355Ala
NM_032578.4:c.1945C>G MANE Select	NP_115967.2:p.Pro649Ala