Canonical Allele Identifier: CA346545

Gene: MYPN

Linked Data

• ClinVar Variation Id: 180453
• ClinVar RCV Id: RCV000157387 ; RCV000476557 ; RCV001311707 ; RCV002372026 ; RCV002492609
• dbSNP Id: rs730880170
• ExAC: 10:69970162 A / G
• gnomAD v2: 10-69970162-A-G
• gnomAD v3: 10-68210405-A-G
• gnomAD v4: 10-68210405-A-G
• MyVariant Identifiers: chr10:g.69970162A>G (hg19) ; chr10:g.68210405A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.68210405A>G , CM000672.2:g.68210405A>G	GRCh38
NC_000010.10:g.69970162A>G , CM000672.1:g.69970162A>G	GRCh37
NC_000010.9:g.69640168A>G	NCBI36
NG_032118.1:g.109289A>G , LRG_410:g.109289A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000354393.7:c.3088A>G	ENSP00000346369.2:p.Met1030Val
ENST00000540630.6:c.3967A>G	ENSP00000441668.3:p.Met1323Val
ENST00000613327.5:c.3913A>G	ENSP00000480757.2:p.Met1305Val
ENST00000688812.1:c.*1176A>G	ENSP00000510658.1:n.*1176A>G
ENST00000690544.1:c.*3184A>G	ENSP00000508989.1:n.*3184A>G
ENST00000358913.10:c.3913A>G MANE Select	ENSP00000351790.5:p.Met1305Val
ENST00000354393.6:c.3088A>G	ENSP00000346369.2:p.Met1030Val
ENST00000358913.9:c.3913A>G	ENSP00000351790.5:p.Met1305Val
ENST00000540630.5:c.3913A>G	ENSP00000441668.2:p.Met1305Val
ENST00000613327.4:c.3031A>G	ENSP00000480757.1:p.Met1011Val
NM_001256267.1:c.3913A>G	NP_001243196.1:p.Met1305Val
NM_001256268.1:c.3031A>G	NP_001243197.1:p.Met1011Val
NM_032578.3:c.3913A>G , LRG_410t1:c.3913A>G	NP_115967.2:p.Met1305Val
NR_045662.3:n.3340A>G
NR_045663.3:n.4042A>G
XM_006718043.2:c.3967A>G	XP_006718106.1:p.Met1323Val
XM_011540292.1:c.3943A>G	XP_011538594.1:p.Met1315Val
XR_946029.1:n.1574+4883T>C
XM_017016833.1:c.3991A>G	XP_016872322.1:p.Met1331Val
XM_017016834.2:c.3913A>G	XP_016872323.1:p.Met1305Val
XM_024448236.1:c.2791A>G	XP_024304004.1:p.Met931Val
NR_045662.4:n.3450A>G
NR_045663.4:n.3987A>G
NM_001256267.2:c.3913A>G	NP_001243196.1:p.Met1305Val
NM_001256268.2:c.3031A>G	NP_001243197.1:p.Met1011Val
NM_032578.4:c.3913A>G MANE Select	NP_115967.2:p.Met1305Val