Canonical Allele Identifier: CA123787
Gene: MPL HGNC NCBI
COSMIC:
COSM4985041 (not active)
COSM4985042 (not active)
MyVariant.info:
GRCh38 chr1:g.43338136G>T
GRCh37 chr1:g.43803807G>T
Revel Score:
ENST00000372468 0.233
ENST00000372470 (MANE Select) 0.233
ENST00000413998 0.233
gnomAD v2:
1:43803807 G / T
gnomAD v3:
1:43338136 G / T
gnomAD v4:
chr1-43338136-G-T
Joint Max Group AF 0.04381873 (AFR)
Genomes Max Group AF 0.04346882 (AFR)
Exomes Max Group AF 0.04309167 (AFR)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.43338136G>T , CM000663.2:g.43338136G>T GRCh38
NC_000001.10:g.43803807G>T , CM000663.1:g.43803807G>T GRCh37
NC_000001.9:g.43576394G>T NCBI36
NG_007525.1:g.5333G>T , LRG_510:g.5333G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000372470.9:c.117G>T MANE Select ENSP00000361548.3:p.Lys39Asn
ENST00000413998.7:c.96G>T ENSP00000414004.3:p.Lys32Asn
ENST00000638732.1:n.117G>T
ENST00000372470.7:c.117G>T ENSP00000361548.3:p.Lys39Asn
ENST00000413998.6:c.117G>T ENSP00000414004.2:p.Lys39Asn
ENST00000612993.1:c.117G>T ENSP00000480273.1:p.Lys39Asn
NM_005373.2:c.117G>T , LRG_510t1:c.117G>T NP_005364.1:p.Lys39Asn
XM_011541478.1:c.96G>T XP_011539780.1:p.Lys32Asn
XM_017001320.1:c.288G>T XP_016856809.1:p.Lys96Asn
NM_005373.3:c.117G>T MANE Select NP_005364.1:p.Lys39Asn
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