Canonical Allele Identifier: CA5522956

Gene: MYPN

Linked Data

• ClinVar Variation Id: 942308
• ClinVar RCV Id: RCV001212270 ; RCV001587228 ; RCV002322031 ; RCV002497724
• dbSNP Id: rs374007615
• ExAC: 10:69955267 A / C
• gnomAD v2: 10-69955267-A-C
• gnomAD v3: 10-68195510-A-C
• gnomAD v4: 10-68195510-A-C
• MyVariant Identifiers: chr10:g.69955267A>C (hg19) ; chr10:g.68195510A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.68195510A>C , CM000672.2:g.68195510A>C	GRCh38
NC_000010.10:g.69955267A>C , CM000672.1:g.69955267A>C	GRCh37
NC_000010.9:g.69625273A>C	NCBI36
NG_032118.1:g.94394A>C , LRG_410:g.94394A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354393.7:c.2311A>C	ENSP00000346369.2:p.Thr771Pro
ENST00000540630.6:c.3190A>C	ENSP00000441668.3:p.Thr1064Pro
ENST00000613327.5:c.3136A>C	ENSP00000480757.2:p.Thr1046Pro
ENST00000688812.1:c.*399A>C	ENSP00000510658.1:n.*399A>C
ENST00000690544.1:c.*2407A>C	ENSP00000508989.1:n.*2407A>C
ENST00000358913.10:c.3136A>C MANE Select	ENSP00000351790.5:p.Thr1046Pro
ENST00000354393.6:c.2311A>C	ENSP00000346369.2:p.Thr771Pro
ENST00000358913.9:c.3136A>C	ENSP00000351790.5:p.Thr1046Pro
ENST00000540630.5:c.3136A>C	ENSP00000441668.2:p.Thr1046Pro
ENST00000613327.4:c.2254A>C	ENSP00000480757.1:p.Thr752Pro
NM_001256267.1:c.3136A>C	NP_001243196.1:p.Thr1046Pro
NM_001256268.1:c.2254A>C	NP_001243197.1:p.Thr752Pro
NM_032578.3:c.3136A>C , LRG_410t1:c.3136A>C	NP_115967.2:p.Thr1046Pro
NR_045662.3:n.2563A>C
NR_045663.3:n.3265A>C
XM_006718043.2:c.3190A>C	XP_006718106.1:p.Thr1064Pro
XM_011540292.1:c.3166A>C	XP_011538594.1:p.Thr1056Pro
XM_017016833.1:c.3214A>C	XP_016872322.1:p.Thr1072Pro
XM_017016834.2:c.3136A>C	XP_016872323.1:p.Thr1046Pro
XM_024448236.1:c.2014A>C	XP_024304004.1:p.Thr672Pro
NR_045662.4:n.2673A>C
NR_045663.4:n.3210A>C
NM_001256267.2:c.3136A>C	NP_001243196.1:p.Thr1046Pro
NM_001256268.2:c.2254A>C	NP_001243197.1:p.Thr752Pro
NM_032578.4:c.3136A>C MANE Select	NP_115967.2:p.Thr1046Pro