Canonical Allele Identifier: CA160844
Gene: MPL HGNC NCBI
COSMIC:
COSM166404
MyVariant.info:
GRCh38 chr1:g.43340027T>C
GRCh37 chr1:g.43805698T>C
Revel Score:
ENST00000372468 0.717
ENST00000372470 (MANE Select) 0.717
ENST00000413998 0.717
gnomAD v2:
1:43805698 T / C
gnomAD v3:
1:43340027 T / C
gnomAD v4:
chr1-43340027-T-C
Joint Max Group AF 0.00339604 (AFR)
Genomes Max Group AF 0.00329262 (AFR)
Exomes Max Group AF 0.00320155 (AFR)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.43340027T>C , CM000663.2:g.43340027T>C GRCh38
NC_000001.10:g.43805698T>C , CM000663.1:g.43805698T>C GRCh37
NC_000001.9:g.43578285T>C NCBI36
NG_007525.1:g.7224T>C , LRG_510:g.7224T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000372470.9:c.754T>C MANE Select ENSP00000361548.3:p.Tyr252His
ENST00000413998.7:c.733T>C ENSP00000414004.3:p.Tyr245His
ENST00000638732.1:n.754T>C
ENST00000372470.7:c.754T>C ENSP00000361548.3:p.Tyr252His
ENST00000413998.6:c.754T>C ENSP00000414004.2:p.Tyr252His
ENST00000612993.1:c.754T>C ENSP00000480273.1:p.Tyr252His
NM_005373.2:c.754T>C , LRG_510t1:c.754T>C NP_005364.1:p.Tyr252His
XM_011541478.1:c.733T>C XP_011539780.1:p.Tyr245His
XM_017001320.1:c.925T>C XP_016856809.1:p.Tyr309His
NM_005373.3:c.754T>C MANE Select NP_005364.1:p.Tyr252His
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