Canonical Allele Identifier: CA339974135
Gene: MPL HGNC NCBI

Linked Data

ClinVar Variation Id: 812959
ClinVar RCV Id: RCV001003895
dbSNP Id: rs775250202
gnomAD v2: 1-43804391-G-A
gnomAD v3: 1-43338720-G-A
gnomAD v4: 1-43338720-G-A
MyVariant Identifiers: chr1:g.43804391G>A (hg19) chr1:g.43338720G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.43338720G>A , CM000663.2:g.43338720G>A GRCh38
NC_000001.10:g.43804391G>A , CM000663.1:g.43804391G>A GRCh37
NC_000001.9:g.43576978G>A NCBI36
NG_007525.1:g.5917G>A , LRG_510:g.5917G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000372470.9:c.391G>A MANE Select ENSP00000361548.3:p.Gly131Ser
ENST00000413998.7:c.370G>A ENSP00000414004.3:p.Gly124Ser
ENST00000638732.1:n.391G>A
ENST00000372470.7:c.391G>A ENSP00000361548.3:p.Gly131Ser
ENST00000413998.6:c.391G>A ENSP00000414004.2:p.Gly131Ser
ENST00000612993.1:c.391G>A ENSP00000480273.1:p.Gly131Ser
NM_005373.2:c.391G>A , LRG_510t1:c.391G>A NP_005364.1:p.Gly131Ser
XM_011541478.1:c.370G>A XP_011539780.1:p.Gly124Ser
XM_017001320.1:c.562G>A XP_016856809.1:p.Gly188Ser
NM_005373.3:c.391G>A MANE Select NP_005364.1:p.Gly131Ser
Search 100 bp 5'
Search 100 bp 3'