Canonical Allele Identifier: CA806590
Gene: MPL HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.43338192C>T
GRCh37 chr1:g.43803863C>T
Revel Score:
ENST00000372468 0.103
ENST00000372470 (MANE Select) 0.103
ENST00000413998 0.103
gnomAD v2:
1:43803863 C / T
gnomAD v3:
1:43338192 C / T
gnomAD v4:
chr1-43338192-C-T
Joint Max Group AF 0.00210009 (EAS)
Genomes Max Group AF 0.00148447 (EAS)
Exomes Max Group AF 0.00207249 (EAS)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.43338192C>T , CM000663.2:g.43338192C>T GRCh38
NC_000001.10:g.43803863C>T , CM000663.1:g.43803863C>T GRCh37
NC_000001.9:g.43576450C>T NCBI36
NG_007525.1:g.5389C>T , LRG_510:g.5389C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000372470.9:c.173C>T MANE Select ENSP00000361548.3:p.Ala58Val
ENST00000413998.7:c.152C>T ENSP00000414004.3:p.Ala51Val
ENST00000638732.1:n.173C>T
ENST00000372470.7:c.173C>T ENSP00000361548.3:p.Ala58Val
ENST00000413998.6:c.173C>T ENSP00000414004.2:p.Ala58Val
ENST00000612993.1:c.173C>T ENSP00000480273.1:p.Ala58Val
NM_005373.2:c.173C>T , LRG_510t1:c.173C>T NP_005364.1:p.Ala58Val
XM_011541478.1:c.152C>T XP_011539780.1:p.Ala51Val
XM_017001320.1:c.344C>T XP_016856809.1:p.Ala115Val
NM_005373.3:c.173C>T MANE Select NP_005364.1:p.Ala58Val
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