Canonical Allele Identifier: CA339973562
Gene: MPL HGNC NCBI

Linked Data

dbSNP Id: rs1361805832
gnomAD v2: 1-43804299-A-T
gnomAD v4: 1-43338628-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.43338628A>T , CM000663.2:g.43338628A>T GRCh38
NC_000001.10:g.43804299A>T , CM000663.1:g.43804299A>T GRCh37
NC_000001.9:g.43576886A>T NCBI36
NG_007525.1:g.5825A>T , LRG_510:g.5825A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000372470.9:c.299A>T MANE Select ENSP00000361548.3:p.Glu100Val
ENST00000413998.7:c.278A>T ENSP00000414004.3:p.Glu93Val
ENST00000638732.1:n.299A>T
ENST00000372470.7:c.299A>T ENSP00000361548.3:p.Glu100Val
ENST00000413998.6:c.299A>T ENSP00000414004.2:p.Glu100Val
ENST00000612993.1:c.299A>T ENSP00000480273.1:p.Glu100Val
NM_005373.2:c.299A>T , LRG_510t1:c.299A>T NP_005364.1:p.Glu100Val
XM_011541478.1:c.278A>T XP_011539780.1:p.Glu93Val
XM_017001320.1:c.470A>T XP_016856809.1:p.Glu157Val
NM_005373.3:c.299A>T MANE Select NP_005364.1:p.Glu100Val