Canonical Allele Identifier: CA376839794

Gene: MYPN

Linked Data

• ClinVar Variation Id: 640837
• ClinVar RCV Id: RCV000793944 ; RCV002397574
• dbSNP Id: rs1388806519
• gnomAD v2: 10-69926146-G-C
• gnomAD v4: 10-68166389-G-C
• MyVariant Identifiers: chr10:g.69926146G>C (hg19) ; chr10:g.68166389G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.68166389G>C , CM000672.2:g.68166389G>C	GRCh38
NC_000010.10:g.69926146G>C , CM000672.1:g.69926146G>C	GRCh37
NC_000010.9:g.69596152G>C	NCBI36
NG_032118.1:g.65273G>C , LRG_410:g.65273G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354393.7:c.871G>C	ENSP00000346369.2:p.Glu291Gln
ENST00000373675.4:c.1696G>C	ENSP00000362779.4:p.Glu566Gln
ENST00000540630.6:c.1750G>C	ENSP00000441668.3:p.Glu584Gln
ENST00000613327.5:c.1696G>C	ENSP00000480757.2:p.Glu566Gln
ENST00000687572.1:c.574G>C	ENSP00000510427.1:p.Glu192Gln
ENST00000688812.1:c.1672G>C	ENSP00000510658.1:p.Glu558Gln
ENST00000689002.1:n.748G>C
ENST00000690544.1:c.*967G>C	ENSP00000508989.1:n.*967G>C
ENST00000358913.10:c.1696G>C MANE Select	ENSP00000351790.5:p.Glu566Gln
ENST00000354393.6:c.871G>C	ENSP00000346369.2:p.Glu291Gln
ENST00000358913.9:c.1696G>C	ENSP00000351790.5:p.Glu566Gln
ENST00000540630.5:c.1696G>C	ENSP00000441668.2:p.Glu566Gln
ENST00000613327.4:c.814G>C	ENSP00000480757.1:p.Glu272Gln
NM_001256267.1:c.1696G>C	NP_001243196.1:p.Glu566Gln
NM_001256268.1:c.814G>C	NP_001243197.1:p.Glu272Gln
NM_032578.3:c.1696G>C , LRG_410t1:c.1696G>C	NP_115967.2:p.Glu566Gln
NR_045662.3:n.1123G>C
NR_045663.3:n.1964G>C
XM_006718043.2:c.1750G>C	XP_006718106.1:p.Glu584Gln
XM_011540292.1:c.1726G>C	XP_011538594.1:p.Glu576Gln
XM_017016833.1:c.1774G>C	XP_016872322.1:p.Glu592Gln
XM_017016834.2:c.1696G>C	XP_016872323.1:p.Glu566Gln
XM_024448236.1:c.574G>C	XP_024304004.1:p.Glu192Gln
NR_045662.4:n.1233G>C
NR_045663.4:n.1909G>C
NM_001256267.2:c.1696G>C	NP_001243196.1:p.Glu566Gln
NM_001256268.2:c.814G>C	NP_001243197.1:p.Glu272Gln
NM_032578.4:c.1696G>C MANE Select	NP_115967.2:p.Glu566Gln