Canonical Allele Identifier: CA806700
Gene: MPL HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.43339435C>A
GRCh37 chr1:g.43805106C>A
Revel Score:
ENST00000372468 0.257
ENST00000372470 (MANE Select) 0.257
ENST00000413998 0.257
gnomAD v2:
1:43805106 C / A
gnomAD v3:
1:43339435 C / A
gnomAD v4:
chr1-43339435-C-A
Joint Max Group AF 0.00003584 (NFE)
Exomes Max Group AF 0.00003717 (NFE)
ClinVar RCV:
RCV003780474
ClinVar Variation:
2923356
dbSNP:
121913610
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.43339435C>A , CM000663.2:g.43339435C>A GRCh38
NC_000001.10:g.43805106C>A , CM000663.1:g.43805106C>A GRCh37
NC_000001.9:g.43577693C>A NCBI36
NG_007525.1:g.6632C>A , LRG_510:g.6632C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000372470.9:c.556C>A MANE Select ENSP00000361548.3:p.Gln186Lys
ENST00000413998.7:c.535C>A ENSP00000414004.3:p.Gln179Lys
ENST00000638732.1:n.556C>A
ENST00000372470.7:c.556C>A ENSP00000361548.3:p.Gln186Lys
ENST00000413998.6:c.556C>A ENSP00000414004.2:p.Gln186Lys
ENST00000612993.1:c.556C>A ENSP00000480273.1:p.Gln186Lys
NM_005373.2:c.556C>A , LRG_510t1:c.556C>A NP_005364.1:p.Gln186Lys
XM_011541478.1:c.535C>A XP_011539780.1:p.Gln179Lys
XM_017001320.1:c.727C>A XP_016856809.1:p.Gln243Lys
NM_005373.3:c.556C>A MANE Select NP_005364.1:p.Gln186Lys
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