Canonical Allele Identifier: CA417417887
Gene: MPL HGNC NCBI

Linked Data

ClinVar Variation Id: 2921584
ClinVar RCV Id: RCV003782606
dbSNP Id: rs1443655691
gnomAD v4: 1-43338696-C-A
MyVariant Identifiers: chr1:g.43804367C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.43338696C>A , CM000663.2:g.43338696C>A GRCh38
NC_000001.10:g.43804367C>A , CM000663.1:g.43804367C>A GRCh37
NC_000001.9:g.43576954C>A NCBI36
NG_007525.1:g.5893C>A , LRG_510:g.5893C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000372470.9:c.367C>A MANE Select ENSP00000361548.3:p.Arg123=
ENST00000413998.7:c.346C>A ENSP00000414004.3:p.Arg116=
ENST00000638732.1:n.367C>A
ENST00000372470.7:c.367C>A ENSP00000361548.3:p.Arg123=
ENST00000413998.6:c.367C>A ENSP00000414004.2:p.Arg123=
ENST00000612993.1:c.367C>A ENSP00000480273.1:p.Arg123=
NM_005373.2:c.367C>A , LRG_510t1:c.367C>A NP_005364.1:p.Arg123=
XM_011541478.1:c.346C>A XP_011539780.1:p.Arg116=
XM_017001320.1:c.538C>A XP_016856809.1:p.Arg180=
NM_005373.3:c.367C>A MANE Select NP_005364.1:p.Arg123=