Canonical Allele Identifier: CA377105146

Gene: MYPN

Linked Data

• ClinVar Variation Id: 488162
• ClinVar RCV Id: RCV000577976 ; RCV002223877
• dbSNP Id: rs1489529278
• gnomAD v2: 10-69882001-C-T
• gnomAD v4: 10-68122244-C-T
• COSMIC: COSM6066632 ; COSM6066633 ; COSM6066634
• MyVariant Identifiers: chr10:g.69882001C>T (hg19) ; chr10:g.68122244C>T (hg38)
• PubMed: PMID:26383716

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.68122244C>T , CM000672.2:g.68122244C>T	GRCh38
NC_000010.10:g.69882001C>T , CM000672.1:g.69882001C>T	GRCh37
NC_000010.9:g.69552007C>T	NCBI36
NG_032118.1:g.21128C>T , LRG_410:g.21128C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000354393.7:c.77+15443C>T	ENSP00000346369.2:n.77+15443C>T
ENST00000373675.4:c.806C>T	ENSP00000362779.4:p.Pro269Leu
ENST00000540630.6:c.806C>T	ENSP00000441668.3:p.Pro269Leu
ENST00000613327.5:c.806C>T	ENSP00000480757.2:p.Pro269Leu
ENST00000685006.1:c.878C>T	ENSP00000510318.1:p.Pro293Leu
ENST00000685060.1:n.1043C>T
ENST00000685154.1:c.806C>T	ENSP00000509251.1:p.Pro269Leu
ENST00000685627.1:c.*817C>T	ENSP00000508637.1:n.*817C>T
ENST00000686289.1:n.113+16061C>T
ENST00000687572.1:c.-221+16061C>T	ENSP00000510427.1:n.-221+16061C>T
ENST00000687705.1:c.*1055C>T	ENSP00000509639.1:n.*1055C>T
ENST00000688812.1:c.806C>T	ENSP00000510658.1:p.Pro269Leu
ENST00000689218.1:n.1035C>T
ENST00000689484.1:c.-220-20696C>T	ENSP00000509884.1:n.-220-20696C>T
ENST00000689797.1:c.-220-20696C>T	ENSP00000510689.1:n.-220-20696C>T
ENST00000690544.1:c.806C>T	ENSP00000508989.1:p.Pro269Leu
ENST00000692038.1:c.*1055C>T	ENSP00000509220.1:n.*1055C>T
ENST00000692953.1:n.62+16061C>T
ENST00000692979.1:c.806C>T	ENSP00000509849.1:p.Pro269Leu
ENST00000358913.10:c.806C>T MANE Select	ENSP00000351790.5:p.Pro269Leu
ENST00000354393.6:c.77+15443C>T	ENSP00000346369.2:n.77+15443C>T
ENST00000358913.9:c.806C>T	ENSP00000351790.5:p.Pro269Leu
ENST00000373675.3:c.806C>T	ENSP00000362779.3:p.Pro269Leu
ENST00000540630.5:c.806C>T	ENSP00000441668.2:p.Pro269Leu
ENST00000613327.4:c.-317C>T	ENSP00000480757.1:n.-317C>T
NM_001256267.1:c.806C>T	NP_001243196.1:p.Pro269Leu
NM_001256268.1:c.-317C>T	NP_001243197.1:n.-317C>T
NM_032578.3:c.806C>T , LRG_410t1:c.806C>T	NP_115967.2:p.Pro269Leu
NR_045662.3:n.329+15443C>T
NR_045663.3:n.1098C>T
XM_006718043.2:c.806C>T	XP_006718106.1:p.Pro269Leu
XM_011540292.1:c.806C>T	XP_011538594.1:p.Pro269Leu
XM_017016833.1:c.884C>T	XP_016872322.1:p.Pro295Leu
XM_017016834.2:c.806C>T	XP_016872323.1:p.Pro269Leu
XM_024448236.1:c.-221+16061C>T	XP_024304004.1:n.-221+16061C>T
NR_045662.4:n.439+15443C>T
NR_045663.4:n.1043C>T
NM_001256267.2:c.806C>T	NP_001243196.1:p.Pro269Leu
NM_001256268.2:c.-317C>T	NP_001243197.1:n.-317C>T
NM_032578.4:c.806C>T MANE Select	NP_115967.2:p.Pro269Leu