Canonical Allele Identifier: CA123780

Gene: MPL

Linked Data

• ClinVar Variation Id: 14158
• ClinVar RCV Id: RCV000015221 ; RCV000121539 ; RCV000792211 ; RCV000852103 ; RCV001091414 ; RCV002490372
• dbSNP Id: rs28928907
• ExAC: 1:43804305 G / C
• gnomAD v2: 1-43804305-G-C
• gnomAD v3: 1-43338634-G-C
• gnomAD v4: 1-43338634-G-C
• MyVariant Identifiers: chr1:g.43804305G>C (hg19) ; chr1:g.43338634G>C (hg38)
• PubMed: PMID:10971406 ; PMID:11133753 ; PMID:16470591 ; PMID:18422784 ; PMID:24728327

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.43338634G>C , CM000663.2:g.43338634G>C	GRCh38
NC_000001.10:g.43804305G>C , CM000663.1:g.43804305G>C	GRCh37
NC_000001.9:g.43576892G>C	NCBI36
NG_007525.1:g.5831G>C , LRG_510:g.5831G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000372470.9:c.305G>C MANE Select	ENSP00000361548.3:p.Arg102Pro
ENST00000413998.7:c.284G>C	ENSP00000414004.3:p.Arg95Pro
ENST00000638732.1:n.305G>C
ENST00000372470.7:c.305G>C	ENSP00000361548.3:p.Arg102Pro
ENST00000413998.6:c.305G>C	ENSP00000414004.2:p.Arg102Pro
ENST00000612993.1:c.305G>C	ENSP00000480273.1:p.Arg102Pro
NM_005373.2:c.305G>C , LRG_510t1:c.305G>C	NP_005364.1:p.Arg102Pro
XM_011541478.1:c.284G>C	XP_011539780.1:p.Arg95Pro
XM_017001320.1:c.476G>C	XP_016856809.1:p.Arg159Pro
NM_005373.3:c.305G>C MANE Select	NP_005364.1:p.Arg102Pro