Canonical Allele Identifier: CA160821
Gene: MPL HGNC NCBI
COSMIC:
COSM5020948 (not active)
COSM5020949 (not active)
MyVariant.info:
GRCh38 chr1:g.43338669G>A
GRCh37 chr1:g.43804340G>A
Revel Score:
ENST00000372468 0.095
ENST00000372470 (MANE Select) 0.095
ENST00000413998 0.095
gnomAD v2:
1:43804340 G / A
gnomAD v3:
1:43338669 G / A
gnomAD v4:
chr1-43338669-G-A
Joint Max Group AF 0.03269679 (NFE)
Genomes Max Group AF 0.03196941 (NFE)
Exomes Max Group AF 0.03267989 (NFE)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.43338669G>A , CM000663.2:g.43338669G>A GRCh38
NC_000001.10:g.43804340G>A , CM000663.1:g.43804340G>A GRCh37
NC_000001.9:g.43576927G>A NCBI36
NG_007525.1:g.5866G>A , LRG_510:g.5866G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000372470.9:c.340G>A MANE Select ENSP00000361548.3:p.Val114Met
ENST00000413998.7:c.319G>A ENSP00000414004.3:p.Val107Met
ENST00000638732.1:n.340G>A
ENST00000372470.7:c.340G>A ENSP00000361548.3:p.Val114Met
ENST00000413998.6:c.340G>A ENSP00000414004.2:p.Val114Met
ENST00000612993.1:c.340G>A ENSP00000480273.1:p.Val114Met
NM_005373.2:c.340G>A , LRG_510t1:c.340G>A NP_005364.1:p.Val114Met
XM_011541478.1:c.319G>A XP_011539780.1:p.Val107Met
XM_017001320.1:c.511G>A XP_016856809.1:p.Val171Met
NM_005373.3:c.340G>A MANE Select NP_005364.1:p.Val114Met
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