Canonical Allele Identifier: CA806633

Gene: MPL

Linked Data

• ClinVar Variation Id: 2949935
• ClinVar RCV Id: RCV003807293
• dbSNP Id: rs140354935
• ExAC: 1:43804306 T / C
• gnomAD v4: 1-43338635-T-C
• MyVariant Identifiers: chr1:g.43804306T>C (hg19) ; chr1:g.43338635T>C (hg38)

Genomic Alleles

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

Transcript Alleles

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