Canonical Allele Identifier: CA469812993
Gene: MYPN HGNC NCBI

Linked Data

ClinVar Variation Id: 1978962
ClinVar RCV Id: RCV002766009
MyVariant Identifiers: chr10:g.69926295T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.68166538T>C , CM000672.2:g.68166538T>C GRCh38
NC_000010.10:g.69926295T>C , CM000672.1:g.69926295T>C GRCh37
NC_000010.9:g.69596301T>C NCBI36
NG_032118.1:g.65422T>C , LRG_410:g.65422T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000354393.7:c.1020T>C ENSP00000346369.2:p.Ala340=
ENST00000373675.4:c.1845T>C ENSP00000362779.4:p.Ala615=
ENST00000540630.6:c.1899T>C ENSP00000441668.3:p.Ala633=
ENST00000613327.5:c.1845T>C ENSP00000480757.2:p.Ala615=
ENST00000687572.1:c.723T>C ENSP00000510427.1:p.Ala241=
ENST00000688812.1:c.1821T>C ENSP00000510658.1:p.Ala607=
ENST00000690544.1:c.*1116T>C ENSP00000508989.1:n.*1116T>C
ENST00000358913.10:c.1845T>C MANE Select ENSP00000351790.5:p.Ala615=
ENST00000354393.6:c.1020T>C ENSP00000346369.2:p.Ala340=
ENST00000358913.9:c.1845T>C ENSP00000351790.5:p.Ala615=
ENST00000540630.5:c.1845T>C ENSP00000441668.2:p.Ala615=
ENST00000613327.4:c.963T>C ENSP00000480757.1:p.Ala321=
NM_001256267.1:c.1845T>C NP_001243196.1:p.Ala615=
NM_001256268.1:c.963T>C NP_001243197.1:p.Ala321=
NM_032578.3:c.1845T>C , LRG_410t1:c.1845T>C NP_115967.2:p.Ala615=
NR_045662.3:n.1272T>C
NR_045663.3:n.2113T>C
XM_006718043.2:c.1899T>C XP_006718106.1:p.Ala633=
XM_011540292.1:c.1875T>C XP_011538594.1:p.Ala625=
XM_017016833.1:c.1923T>C XP_016872322.1:p.Ala641=
XM_017016834.2:c.1845T>C XP_016872323.1:p.Ala615=
XM_024448236.1:c.723T>C XP_024304004.1:p.Ala241=
NR_045662.4:n.1382T>C
NR_045663.4:n.2058T>C
NM_001256267.2:c.1845T>C NP_001243196.1:p.Ala615=
NM_001256268.2:c.963T>C NP_001243197.1:p.Ala321=
NM_032578.4:c.1845T>C MANE Select NP_115967.2:p.Ala615=