Canonical Allele Identifier: CA806813
Gene: MPL HGNC NCBI
COSMIC:
COSM4775550 (not active)
COSM4775551 (not active)
MyVariant.info:
GRCh38 chr1:g.43346467G>A
GRCh37 chr1:g.43812138G>A
Revel Score:
ENST00000372468 0.376
ENST00000372470 (MANE Select) 0.376
ENST00000413998 0.376
gnomAD v2:
1:43812138 G / A
gnomAD v3:
1:43346467 G / A
gnomAD v4:
chr1-43346467-G-A
Joint Max Group AF 0.00160199 (AFR)
Genomes Max Group AF 0.00145513 (AFR)
Exomes Max Group AF 0.0015625 (AFR)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.43346467G>A , CM000663.2:g.43346467G>A GRCh38
NC_000001.10:g.43812138G>A , CM000663.1:g.43812138G>A GRCh37
NC_000001.9:g.43584725G>A NCBI36
NG_007525.1:g.13664G>A , LRG_510:g.13664G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000372470.9:c.1003G>A MANE Select ENSP00000361548.3:p.Glu335Lys
ENST00000413998.7:c.982G>A ENSP00000414004.3:p.Glu328Lys
ENST00000638732.1:n.1003G>A
ENST00000372470.7:c.1003G>A ENSP00000361548.3:p.Glu335Lys
ENST00000413998.6:c.1003G>A ENSP00000414004.2:p.Glu335Lys
ENST00000612993.1:c.1003G>A ENSP00000480273.1:p.Glu335Lys
NM_005373.2:c.1003G>A , LRG_510t1:c.1003G>A NP_005364.1:p.Glu335Lys
XM_011541478.1:c.982G>A XP_011539780.1:p.Glu328Lys
XM_017001320.1:c.1174G>A XP_016856809.1:p.Glu392Lys
NM_005373.3:c.1003G>A MANE Select NP_005364.1:p.Glu335Lys
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