Canonical Allele Identifier: CA10610313

Gene: MPL CDC20-DT

Linked Data

• ClinVar Variation Id: 297438
• ClinVar RCV Id: RCV000294666 ; RCV000351856
• dbSNP Id: rs536844021
• gnomAD v2: 1-43820117-A-T
• gnomAD v3: 1-43354446-A-T
• gnomAD v4: 1-43354446-A-T
• MyVariant Identifiers: chr1:g.43820117A>T (hg19) ; chr1:g.43354446A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.43354446A>T , CM000663.2:g.43354446A>T	GRCh38
NC_000001.10:g.43820117A>T , CM000663.1:g.43820117A>T	GRCh37
NC_000001.9:g.43592704A>T	NCBI36
NG_007525.1:g.21643A>T , LRG_510:g.21643A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372470.9:c.*1674A>T (MPL) MANE Select	ENSP00000361548.3:n.*1674A>T
NM_005373.2:c.*1674A>T , LRG_510t1:c.*1674A>T (MPL)	NP_005364.1:n.*1674A>T
XR_947277.1:n.1057T>A (CDC20-DT)
XR_947278.1:n.1084T>A (CDC20-DT)
XR_947279.1:n.1166T>A (CDC20-DT)
XR_947281.1:n.1086T>A (CDC20-DT)
XR_947282.1:n.948T>A (CDC20-DT)
NM_005373.3:c.*1674A>T (MPL) MANE Select	NP_005364.1:n.*1674A>T