Canonical Allele Identifier: CA806625
Gene: MPL HGNC NCBI

Linked Data

ClinVar Variation Id: 956954
ClinVar RCV Id: RCV001229853 RCV001251410
dbSNP Id: rs763144679
ExAC: 1:43804268 C / T
gnomAD v2: 1-43804268-C-T
gnomAD v4: 1-43338597-C-T
MyVariant Identifiers: chr1:g.43804268C>T (hg19) chr1:g.43338597C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.43338597C>T , CM000663.2:g.43338597C>T GRCh38
NC_000001.10:g.43804268C>T , CM000663.1:g.43804268C>T GRCh37
NC_000001.9:g.43576855C>T NCBI36
NG_007525.1:g.5794C>T , LRG_510:g.5794C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000372470.9:c.268C>T MANE Select ENSP00000361548.3:p.Arg90Ter
ENST00000413998.7:c.247C>T ENSP00000414004.3:p.Arg83Ter
ENST00000638732.1:n.268C>T
ENST00000372470.7:c.268C>T ENSP00000361548.3:p.Arg90Ter
ENST00000413998.6:c.268C>T ENSP00000414004.2:p.Arg90Ter
ENST00000612993.1:c.268C>T ENSP00000480273.1:p.Arg90Ter
NM_005373.2:c.268C>T , LRG_510t1:c.268C>T NP_005364.1:p.Arg90Ter
XM_011541478.1:c.247C>T XP_011539780.1:p.Arg83Ter
XM_017001320.1:c.439C>T XP_016856809.1:p.Arg147Ter
NM_005373.3:c.268C>T MANE Select NP_005364.1:p.Arg90Ter
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