Canonical Allele Identifier: CA806882
Gene: MPL HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.43348870G>A
GRCh37 chr1:g.43814541G>A
Revel Score:
ENST00000372468 0.086
ENST00000372470 (MANE Select) 0.086
ENST00000413998 0.086
gnomAD v2:
1:43814541 G / A
gnomAD v3:
1:43348870 G / A
gnomAD v4:
chr1-43348870-G-A
Joint Max Group AF 0.00156511 (AFR)
Genomes Max Group AF 0.00125763 (AFR)
Exomes Max Group AF 0.00174029 (AFR)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.43348870G>A , CM000663.2:g.43348870G>A GRCh38
NC_000001.10:g.43814541G>A , CM000663.1:g.43814541G>A GRCh37
NC_000001.9:g.43587128G>A NCBI36
NG_007525.1:g.16067G>A , LRG_510:g.16067G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000372470.9:c.1336G>A MANE Select ENSP00000361548.3:p.Gly446Arg
ENST00000413998.7:c.1315G>A ENSP00000414004.3:p.Gly439Arg
ENST00000638732.1:n.1336G>A
ENST00000372470.7:c.1336G>A ENSP00000361548.3:p.Gly446Arg
ENST00000413998.6:c.1336G>A ENSP00000414004.2:p.Gly446Arg
ENST00000612993.1:c.1336G>A ENSP00000480273.1:p.Gly446Arg
NM_005373.2:c.1336G>A , LRG_510t1:c.1336G>A NP_005364.1:p.Gly446Arg
XM_011541478.1:c.1315G>A XP_011539780.1:p.Gly439Arg
XM_017001320.1:c.1507G>A XP_016856809.1:p.Gly503Arg
NM_005373.3:c.1336G>A MANE Select NP_005364.1:p.Gly446Arg
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