Canonical Allele Identifier: CA376857499

Gene: MYPN

Linked Data

• ClinVar Variation Id: 2103470
• ClinVar RCV Id: RCV003022165
• MyVariant Identifiers: chr10:g.69955247T>G (hg19) ; chr10:g.68195490T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.68195490T>G , CM000672.2:g.68195490T>G	GRCh38
NC_000010.10:g.69955247T>G , CM000672.1:g.69955247T>G	GRCh37
NC_000010.9:g.69625253T>G	NCBI36
NG_032118.1:g.94374T>G , LRG_410:g.94374T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354393.7:c.2291T>G	ENSP00000346369.2:p.Leu764Trp
ENST00000540630.6:c.3170T>G	ENSP00000441668.3:p.Leu1057Trp
ENST00000613327.5:c.3116T>G	ENSP00000480757.2:p.Leu1039Trp
ENST00000688812.1:c.*379T>G	ENSP00000510658.1:n.*379T>G
ENST00000690544.1:c.*2387T>G	ENSP00000508989.1:n.*2387T>G
ENST00000358913.10:c.3116T>G MANE Select	ENSP00000351790.5:p.Leu1039Trp
ENST00000354393.6:c.2291T>G	ENSP00000346369.2:p.Leu764Trp
ENST00000358913.9:c.3116T>G	ENSP00000351790.5:p.Leu1039Trp
ENST00000540630.5:c.3116T>G	ENSP00000441668.2:p.Leu1039Trp
ENST00000613327.4:c.2234T>G	ENSP00000480757.1:p.Leu745Trp
NM_001256267.1:c.3116T>G	NP_001243196.1:p.Leu1039Trp
NM_001256268.1:c.2234T>G	NP_001243197.1:p.Leu745Trp
NM_032578.3:c.3116T>G , LRG_410t1:c.3116T>G	NP_115967.2:p.Leu1039Trp
NR_045662.3:n.2543T>G
NR_045663.3:n.3245T>G
XM_006718043.2:c.3170T>G	XP_006718106.1:p.Leu1057Trp
XM_011540292.1:c.3146T>G	XP_011538594.1:p.Leu1049Trp
XM_017016833.1:c.3194T>G	XP_016872322.1:p.Leu1065Trp
XM_017016834.2:c.3116T>G	XP_016872323.1:p.Leu1039Trp
XM_024448236.1:c.1994T>G	XP_024304004.1:p.Leu665Trp
NR_045662.4:n.2653T>G
NR_045663.4:n.3190T>G
NM_001256267.2:c.3116T>G	NP_001243196.1:p.Leu1039Trp
NM_001256268.2:c.2234T>G	NP_001243197.1:p.Leu745Trp
NM_032578.4:c.3116T>G MANE Select	NP_115967.2:p.Leu1039Trp