Canonical Allele Identifier: CA21606782
Gene: MPL HGNC NCBI

Linked Data

dbSNP Id: rs1032924585
gnomAD v3: 1-43337974-G-T
gnomAD v4: 1-43337974-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.43337974G>T , CM000663.2:g.43337974G>T GRCh38
NC_000001.10:g.43803645G>T , CM000663.1:g.43803645G>T GRCh37
NC_000001.9:g.43576232G>T NCBI36
NG_007525.1:g.5171G>T , LRG_510:g.5171G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000372470.9:c.79+47G>T MANE Select ENSP00000361548.3:n.79+47G>T
ENST00000413998.7:c.79+47G>T ENSP00000414004.3:n.79+47G>T
ENST00000638732.1:n.79+47G>T
ENST00000372470.7:c.79+47G>T ENSP00000361548.3:n.79+47G>T
ENST00000413998.6:c.79+47G>T ENSP00000414004.2:n.79+47G>T
ENST00000612993.1:c.79+47G>T ENSP00000480273.1:n.79+47G>T
NM_005373.2:c.79+47G>T , LRG_510t1:c.79+47G>T NP_005364.1:n.79+47G>T
XM_011541478.1:c.79+47G>T XP_011539780.1:n.79+47G>T
XM_017001320.1:c.126G>T XP_016856809.1:p.Glu42Asp
NM_005373.3:c.79+47G>T MANE Select NP_005364.1:n.79+47G>T