Canonical Allele Identifier: CA806641
Gene: MPL HGNC NCBI

Linked Data

ClinVar Variation Id: 2184431
ClinVar RCV Id: RCV002603293
dbSNP Id: rs770877156
ExAC: 1:43804368 G / A
gnomAD v2: 1-43804368-G-A
gnomAD v3: 1-43338697-G-A
gnomAD v4: 1-43338697-G-A
MyVariant Identifiers: chr1:g.43804368G>A (hg19) chr1:g.43338697G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.43338697G>A , CM000663.2:g.43338697G>A GRCh38
NC_000001.10:g.43804368G>A , CM000663.1:g.43804368G>A GRCh37
NC_000001.9:g.43576955G>A NCBI36
NG_007525.1:g.5894G>A , LRG_510:g.5894G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000372470.9:c.368G>A MANE Select ENSP00000361548.3:p.Arg123Gln
ENST00000413998.7:c.347G>A ENSP00000414004.3:p.Arg116Gln
ENST00000638732.1:n.368G>A
ENST00000372470.7:c.368G>A ENSP00000361548.3:p.Arg123Gln
ENST00000413998.6:c.368G>A ENSP00000414004.2:p.Arg123Gln
ENST00000612993.1:c.368G>A ENSP00000480273.1:p.Arg123Gln
NM_005373.2:c.368G>A , LRG_510t1:c.368G>A NP_005364.1:p.Arg123Gln
XM_011541478.1:c.347G>A XP_011539780.1:p.Arg116Gln
XM_017001320.1:c.539G>A XP_016856809.1:p.Arg180Gln
NM_005373.3:c.368G>A MANE Select NP_005364.1:p.Arg123Gln
Search 100 bp 5'
Search 100 bp 3'