Canonical Allele Identifier: CA339983781

Gene: MPL

Linked Data

• ClinVar Variation Id: 435889
• ClinVar RCV Id: RCV000501453
• dbSNP Id: rs1553128241
• MyVariant Identifiers: chr1:g.43812600T>A (hg19) ; chr1:g.43346929T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.43346929T>A , CM000663.2:g.43346929T>A	GRCh38
NC_000001.10:g.43812600T>A , CM000663.1:g.43812600T>A	GRCh37
NC_000001.9:g.43585187T>A	NCBI36
NG_007525.1:g.14126T>A , LRG_510:g.14126T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372470.9:c.1303T>A MANE Select	ENSP00000361548.3:p.Trp435Arg
ENST00000413998.7:c.1282T>A	ENSP00000414004.3:p.Trp428Arg
ENST00000638732.1:n.1303T>A
ENST00000372470.7:c.1303T>A	ENSP00000361548.3:p.Trp435Arg
ENST00000413998.6:c.1303T>A	ENSP00000414004.2:p.Trp435Arg
ENST00000612993.1:c.1303T>A	ENSP00000480273.1:p.Trp435Arg
NM_005373.2:c.1303T>A , LRG_510t1:c.1303T>A	NP_005364.1:p.Trp435Arg
XM_011541478.1:c.1282T>A	XP_011539780.1:p.Trp428Arg
XM_017001320.1:c.1474T>A	XP_016856809.1:p.Trp492Arg
NM_005373.3:c.1303T>A MANE Select	NP_005364.1:p.Trp435Arg