Canonical Allele Identifier: CA335273

Gene: MYPN

Linked Data

• ClinVar Variation Id: 201871
• ClinVar RCV Id: RCV000234076 ; RCV000786383 ; RCV003165404
• dbSNP Id: rs754227127
• ExAC: 10:69955253 T / A
• gnomAD v2: 10-69955253-T-A
• gnomAD v3: 10-68195496-T-A
• gnomAD v4: 10-68195496-T-A
• MyVariant Identifiers: chr10:g.69955253T>A (hg19) ; chr10:g.68195496T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.68195496T>A , CM000672.2:g.68195496T>A	GRCh38
NC_000010.10:g.69955253T>A , CM000672.1:g.69955253T>A	GRCh37
NC_000010.9:g.69625259T>A	NCBI36
NG_032118.1:g.94380T>A , LRG_410:g.94380T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354393.7:c.2297T>A	ENSP00000346369.2:p.Ile766Asn
ENST00000540630.6:c.3176T>A	ENSP00000441668.3:p.Ile1059Asn
ENST00000613327.5:c.3122T>A	ENSP00000480757.2:p.Ile1041Asn
ENST00000688812.1:c.*385T>A	ENSP00000510658.1:n.*385T>A
ENST00000690544.1:c.*2393T>A	ENSP00000508989.1:n.*2393T>A
ENST00000358913.10:c.3122T>A MANE Select	ENSP00000351790.5:p.Ile1041Asn
ENST00000354393.6:c.2297T>A	ENSP00000346369.2:p.Ile766Asn
ENST00000358913.9:c.3122T>A	ENSP00000351790.5:p.Ile1041Asn
ENST00000540630.5:c.3122T>A	ENSP00000441668.2:p.Ile1041Asn
ENST00000613327.4:c.2240T>A	ENSP00000480757.1:p.Ile747Asn
NM_001256267.1:c.3122T>A	NP_001243196.1:p.Ile1041Asn
NM_001256268.1:c.2240T>A	NP_001243197.1:p.Ile747Asn
NM_032578.3:c.3122T>A , LRG_410t1:c.3122T>A	NP_115967.2:p.Ile1041Asn
NR_045662.3:n.2549T>A
NR_045663.3:n.3251T>A
XM_006718043.2:c.3176T>A	XP_006718106.1:p.Ile1059Asn
XM_011540292.1:c.3152T>A	XP_011538594.1:p.Ile1051Asn
XM_017016833.1:c.3200T>A	XP_016872322.1:p.Ile1067Asn
XM_017016834.2:c.3122T>A	XP_016872323.1:p.Ile1041Asn
XM_024448236.1:c.2000T>A	XP_024304004.1:p.Ile667Asn
NR_045662.4:n.2659T>A
NR_045663.4:n.3196T>A
NM_001256267.2:c.3122T>A	NP_001243196.1:p.Ile1041Asn
NM_001256268.2:c.2240T>A	NP_001243197.1:p.Ile747Asn
NM_032578.4:c.3122T>A MANE Select	NP_115967.2:p.Ile1041Asn