Canonical Allele Identifier: CA806634
Gene: MPL HGNC NCBI

Linked Data

ClinVar Variation Id: 1336302
ClinVar RCV Id: RCV001817257 RCV002478051 RCV002541981
dbSNP Id: rs145313814
ExAC: 1:43804313 T / C
gnomAD v2: 1-43804313-T-C
gnomAD v3: 1-43338642-T-C
gnomAD v4: 1-43338642-T-C
MyVariant Identifiers: chr1:g.43804313T>C (hg19) chr1:g.43338642T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.43338642T>C , CM000663.2:g.43338642T>C GRCh38
NC_000001.10:g.43804313T>C , CM000663.1:g.43804313T>C GRCh37
NC_000001.9:g.43576900T>C NCBI36
NG_007525.1:g.5839T>C , LRG_510:g.5839T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000372470.9:c.313T>C MANE Select ENSP00000361548.3:p.Phe105Leu
ENST00000413998.7:c.292T>C ENSP00000414004.3:p.Phe98Leu
ENST00000638732.1:n.313T>C
ENST00000372470.7:c.313T>C ENSP00000361548.3:p.Phe105Leu
ENST00000413998.6:c.313T>C ENSP00000414004.2:p.Phe105Leu
ENST00000612993.1:c.313T>C ENSP00000480273.1:p.Phe105Leu
NM_005373.2:c.313T>C , LRG_510t1:c.313T>C NP_005364.1:p.Phe105Leu
XM_011541478.1:c.292T>C XP_011539780.1:p.Phe98Leu
XM_017001320.1:c.484T>C XP_016856809.1:p.Phe162Leu
NM_005373.3:c.313T>C MANE Select NP_005364.1:p.Phe105Leu
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