Canonical Allele Identifier: CA417417429

Gene: MPL

Linked Data

• ClinVar Variation Id: 1160441
• ClinVar RCV Id: RCV001504591
• dbSNP Id: rs140354935
• MyVariant Identifiers: chr1:g.43804306T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.43338635T>A , CM000663.2:g.43338635T>A	GRCh38
NC_000001.10:g.43804306T>A , CM000663.1:g.43804306T>A	GRCh37
NC_000001.9:g.43576893T>A	NCBI36
NG_007525.1:g.5832T>A , LRG_510:g.5832T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372470.9:c.306T>A MANE Select	ENSP00000361548.3:p.Arg102=
ENST00000413998.7:c.285T>A	ENSP00000414004.3:p.Arg95=
ENST00000638732.1:n.306T>A
ENST00000372470.7:c.306T>A	ENSP00000361548.3:p.Arg102=
ENST00000413998.6:c.306T>A	ENSP00000414004.2:p.Arg102=
ENST00000612993.1:c.306T>A	ENSP00000480273.1:p.Arg102=
NM_005373.2:c.306T>A , LRG_510t1:c.306T>A	NP_005364.1:p.Arg102=
XM_011541478.1:c.285T>A	XP_011539780.1:p.Arg95=
XM_017001320.1:c.477T>A	XP_016856809.1:p.Arg159=
NM_005373.3:c.306T>A MANE Select	NP_005364.1:p.Arg102=