Canonical Allele Identifier: CA215289

Gene: MYPN

Linked Data

• ClinVar Variation Id: 31795
• ClinVar RCV Id: RCV000024488 ; RCV000180998 ; RCV000247309 ; RCV001778663 ; RCV001079910
• dbSNP Id: rs2673794
• ExAC: 10:69926097 T / C
• gnomAD v2: 10-69926097-T-C
• gnomAD v3: 10-68166340-T-C
• gnomAD v4: 10-68166340-T-C
• MyVariant Identifiers: chr10:g.69926097T>C (hg19) ; chr10:g.68166340T>C (hg38)
• PubMed: PMID:18006477 ; PMID:22286171

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.68166340T>C , CM000672.2:g.68166340T>C	GRCh38
NC_000010.10:g.69926097T>C , CM000672.1:g.69926097T>C	GRCh37
NC_000010.9:g.69596103T>C	NCBI36
NG_032118.1:g.65224T>C , LRG_410:g.65224T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354393.7:c.822T>C	ENSP00000346369.2:p.Ser274=
ENST00000373675.4:c.1647T>C	ENSP00000362779.4:p.Ser549=
ENST00000540630.6:c.1701T>C	ENSP00000441668.3:p.Ser567=
ENST00000613327.5:c.1647T>C	ENSP00000480757.2:p.Ser549=
ENST00000687572.1:c.525T>C	ENSP00000510427.1:p.Ser175=
ENST00000687705.1:c.*1896T>C	ENSP00000509639.1:n.*1896T>C
ENST00000688812.1:c.1623T>C	ENSP00000510658.1:p.Ser541=
ENST00000689002.1:n.699T>C
ENST00000690544.1:c.*918T>C	ENSP00000508989.1:n.*918T>C
ENST00000358913.10:c.1647T>C MANE Select	ENSP00000351790.5:p.Ser549=
ENST00000354393.6:c.822T>C	ENSP00000346369.2:p.Ser274=
ENST00000358913.9:c.1647T>C	ENSP00000351790.5:p.Ser549=
ENST00000540630.5:c.1647T>C	ENSP00000441668.2:p.Ser549=
ENST00000613327.4:c.765T>C	ENSP00000480757.1:p.Ser255=
NM_001256267.1:c.1647T>C	NP_001243196.1:p.Ser549=
NM_001256268.1:c.765T>C	NP_001243197.1:p.Ser255=
NM_032578.3:c.1647T>C , LRG_410t1:c.1647T>C	NP_115967.2:p.Ser549=
NR_045662.3:n.1074T>C
NR_045663.3:n.1915T>C
XM_006718043.2:c.1701T>C	XP_006718106.1:p.Ser567=
XM_011540292.1:c.1677T>C	XP_011538594.1:p.Ser559=
XM_017016833.1:c.1725T>C	XP_016872322.1:p.Ser575=
XM_017016834.2:c.1647T>C	XP_016872323.1:p.Ser549=
XM_024448236.1:c.525T>C	XP_024304004.1:p.Ser175=
NR_045662.4:n.1184T>C
NR_045663.4:n.1860T>C
NM_001256267.2:c.1647T>C	NP_001243196.1:p.Ser549=
NM_001256268.2:c.765T>C	NP_001243197.1:p.Ser255=
NM_032578.4:c.1647T>C MANE Select	NP_115967.2:p.Ser549=