Canonical Allele Identifier: CA469805140

Gene: MYPN

Linked Data

• ClinVar Variation Id: 2051646
• ClinVar RCV Id: RCV002904885
• dbSNP Id: rs1243443520
• gnomAD v3: 10-68165806-C-T
• gnomAD v4: 10-68165806-C-T
• MyVariant Identifiers: chr10:g.69925563C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.68165806C>T , CM000672.2:g.68165806C>T	GRCh38
NC_000010.10:g.69925563C>T , CM000672.1:g.69925563C>T	GRCh37
NC_000010.9:g.69595569C>T	NCBI36
NG_032118.1:g.64690C>T , LRG_410:g.64690C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354393.7:c.763C>T	ENSP00000346369.2:p.Leu255=
ENST00000373675.4:c.1588C>T	ENSP00000362779.4:p.Leu530=
ENST00000540630.6:c.1642C>T	ENSP00000441668.3:p.Leu548=
ENST00000613327.5:c.1588C>T	ENSP00000480757.2:p.Leu530=
ENST00000687572.1:c.466C>T	ENSP00000510427.1:p.Leu156=
ENST00000687705.1:c.*1837C>T	ENSP00000509639.1:n.*1837C>T
ENST00000688812.1:c.1564C>T	ENSP00000510658.1:p.Leu522=
ENST00000689002.1:n.640C>T
ENST00000690544.1:c.*859C>T	ENSP00000508989.1:n.*859C>T
ENST00000358913.10:c.1588C>T MANE Select	ENSP00000351790.5:p.Leu530=
ENST00000354393.6:c.763C>T	ENSP00000346369.2:p.Leu255=
ENST00000358913.9:c.1588C>T	ENSP00000351790.5:p.Leu530=
ENST00000540630.5:c.1588C>T	ENSP00000441668.2:p.Leu530=
ENST00000613327.4:c.706C>T	ENSP00000480757.1:p.Leu236=
NM_001256267.1:c.1588C>T	NP_001243196.1:p.Leu530=
NM_001256268.1:c.706C>T	NP_001243197.1:p.Leu236=
NM_032578.3:c.1588C>T , LRG_410t1:c.1588C>T	NP_115967.2:p.Leu530=
NR_045662.3:n.1015C>T
NR_045663.3:n.1856C>T
XM_006718043.2:c.1642C>T	XP_006718106.1:p.Leu548=
XM_011540292.1:c.1618C>T	XP_011538594.1:p.Leu540=
XM_017016833.1:c.1666C>T	XP_016872322.1:p.Leu556=
XM_017016834.2:c.1588C>T	XP_016872323.1:p.Leu530=
XM_024448236.1:c.466C>T	XP_024304004.1:p.Leu156=
NR_045662.4:n.1125C>T
NR_045663.4:n.1801C>T
NM_001256267.2:c.1588C>T	NP_001243196.1:p.Leu530=
NM_001256268.2:c.706C>T	NP_001243197.1:p.Leu236=
NM_032578.4:c.1588C>T MANE Select	NP_115967.2:p.Leu530=