Canonical Allele Identifier: CA339973584
Gene: MPL HGNC NCBI

Linked Data

ClinVar Variation Id: 988868
ClinVar RCV Id: RCV001270587 RCV001880205
dbSNP Id: rs28928907
gnomAD v2: 1-43804305-G-A
gnomAD v3: 1-43338634-G-A
gnomAD v4: 1-43338634-G-A
MyVariant Identifiers: chr1:g.43804305G>A (hg19) chr1:g.43338634G>A (hg38)
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000372470.9:c.305G>A MANE Select ENSP00000361548.3:p.Arg102His
ENST00000413998.7:c.284G>A ENSP00000414004.3:p.Arg95His
ENST00000638732.1:n.305G>A
ENST00000372470.7:c.305G>A ENSP00000361548.3:p.Arg102His
ENST00000413998.6:c.305G>A ENSP00000414004.2:p.Arg102His
ENST00000612993.1:c.305G>A ENSP00000480273.1:p.Arg102His
NM_005373.2:c.305G>A , LRG_510t1:c.305G>A NP_005364.1:p.Arg102His
XM_011541478.1:c.284G>A XP_011539780.1:p.Arg95His
XM_017001320.1:c.476G>A XP_016856809.1:p.Arg159His
NM_005373.3:c.305G>A MANE Select NP_005364.1:p.Arg102His
Search 100 bp 5'
Search 100 bp 3'