Canonical Allele Identifier: CA806644
Gene: MPL HGNC NCBI

Linked Data

ClinVar Variation Id: 1705424
ClinVar RCV Id: RCV002283738
dbSNP Id: rs201101813
ExAC: 1:43804382 G / T
gnomAD v2: 1-43804382-G-T
gnomAD v3: 1-43338711-G-T
gnomAD v4: 1-43338711-G-T
MyVariant Identifiers: chr1:g.43804382G>T (hg19) chr1:g.43338711G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.43338711G>T , CM000663.2:g.43338711G>T GRCh38
NC_000001.10:g.43804382G>T , CM000663.1:g.43804382G>T GRCh37
NC_000001.9:g.43576969G>T NCBI36
NG_007525.1:g.5908G>T , LRG_510:g.5908G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000372470.9:c.382G>T MANE Select ENSP00000361548.3:p.Asp128Tyr
ENST00000413998.7:c.361G>T ENSP00000414004.3:p.Asp121Tyr
ENST00000638732.1:n.382G>T
ENST00000372470.7:c.382G>T ENSP00000361548.3:p.Asp128Tyr
ENST00000413998.6:c.382G>T ENSP00000414004.2:p.Asp128Tyr
ENST00000612993.1:c.382G>T ENSP00000480273.1:p.Asp128Tyr
NM_005373.2:c.382G>T , LRG_510t1:c.382G>T NP_005364.1:p.Asp128Tyr
XM_011541478.1:c.361G>T XP_011539780.1:p.Asp121Tyr
XM_017001320.1:c.553G>T XP_016856809.1:p.Asp185Tyr
NM_005373.3:c.382G>T MANE Select NP_005364.1:p.Asp128Tyr
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