Canonical Allele Identifier: CA160821
Gene: MPL HGNC NCBI

Linked Data

ClinVar Variation Id: 134825
dbSNP Id: rs12731981
gnomAD v2: 1-43804340-G-A
gnomAD v3: 1-43338669-G-A
gnomAD v4: 1-43338669-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.43338669G>A , CM000663.2:g.43338669G>A GRCh38
NC_000001.10:g.43804340G>A , CM000663.1:g.43804340G>A GRCh37
NC_000001.9:g.43576927G>A NCBI36
NG_007525.1:g.5866G>A , LRG_510:g.5866G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000372470.9:c.340G>A MANE Select ENSP00000361548.3:p.Val114Met
ENST00000413998.7:c.319G>A ENSP00000414004.3:p.Val107Met
ENST00000638732.1:n.340G>A
ENST00000372470.7:c.340G>A ENSP00000361548.3:p.Val114Met
ENST00000413998.6:c.340G>A ENSP00000414004.2:p.Val114Met
ENST00000612993.1:c.340G>A ENSP00000480273.1:p.Val114Met
NM_005373.2:c.340G>A , LRG_510t1:c.340G>A NP_005364.1:p.Val114Met
XM_011541478.1:c.319G>A XP_011539780.1:p.Val107Met
XM_017001320.1:c.511G>A XP_016856809.1:p.Val171Met
NM_005373.3:c.340G>A MANE Select NP_005364.1:p.Val114Met