Canonical Allele Identifier: CA417428395
Gene: MPL HGNC NCBI

Linked Data

ClinVar Variation Id: 2927773
ClinVar RCV Id: RCV003784403
dbSNP Id: rs1215125735
gnomAD v2: 1-43818347-G-C
gnomAD v3: 1-43352676-G-C
gnomAD v4: 1-43352676-G-C
MyVariant Identifiers: chr1:g.43818347G>C (hg19) chr1:g.43352676G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.43352676G>C , CM000663.2:g.43352676G>C GRCh38
NC_000001.10:g.43818347G>C , CM000663.1:g.43818347G>C GRCh37
NC_000001.9:g.43590934G>C NCBI36
NG_007525.1:g.19873G>C , LRG_510:g.19873G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000372470.9:c.1812G>C MANE Select ENSP00000361548.3:p.Leu604=
ENST00000413998.7:c.1791G>C ENSP00000414004.3:p.Leu597=
ENST00000643351.1:c.470G>C
ENST00000372470.7:c.1812G>C ENSP00000361548.3:p.Leu604=
NM_005373.2:c.1812G>C , LRG_510t1:c.1812G>C NP_005364.1:p.Leu604=
XM_011541478.1:c.1791G>C XP_011539780.1:p.Leu597=
XM_017001320.1:c.1983G>C XP_016856809.1:p.Leu661=
NM_005373.3:c.1812G>C MANE Select NP_005364.1:p.Leu604=
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