Canonical Allele Identifier: CA806582
Gene: MPL HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.43338146C>T
GRCh37 chr1:g.43803817C>T
gnomAD v2:
1:43803817 C / T
gnomAD v3:
1:43338146 C / T
gnomAD v4:
chr1-43338146-C-T
Joint Max Group AF 0.00004374 (AFR)
Genomes Max Group AF 0.00004741 (AFR)
Exomes Max Group AF 0.00001093 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.43338146C>T , CM000663.2:g.43338146C>T GRCh38
NC_000001.10:g.43803817C>T , CM000663.1:g.43803817C>T GRCh37
NC_000001.9:g.43576404C>T NCBI36
NG_007525.1:g.5343C>T , LRG_510:g.5343C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000372470.9:c.127C>T MANE Select ENSP00000361548.3:p.Arg43Ter
ENST00000413998.7:c.106C>T ENSP00000414004.3:p.Arg36Ter
ENST00000638732.1:n.127C>T
ENST00000372470.7:c.127C>T ENSP00000361548.3:p.Arg43Ter
ENST00000413998.6:c.127C>T ENSP00000414004.2:p.Arg43Ter
ENST00000612993.1:c.127C>T ENSP00000480273.1:p.Arg43Ter
NM_005373.2:c.127C>T , LRG_510t1:c.127C>T NP_005364.1:p.Arg43Ter
XM_011541478.1:c.106C>T XP_011539780.1:p.Arg36Ter
XM_017001320.1:c.298C>T XP_016856809.1:p.Arg100Ter
NM_005373.3:c.127C>T MANE Select NP_005364.1:p.Arg43Ter
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