Canonical Allele Identifier: CA807044
Gene: MPL HGNC NCBI

Linked Data

dbSNP Id: rs371858774
ExAC: 1:43818458 C / T
gnomAD v2: 1-43818458-C-T
gnomAD v3: 1-43352787-C-T
gnomAD v4: 1-43352787-C-T
MyVariant Identifiers: chr1:g.43818458C>T (hg19) chr1:g.43352787C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.43352787C>T , CM000663.2:g.43352787C>T GRCh38
NC_000001.10:g.43818458C>T , CM000663.1:g.43818458C>T GRCh37
NC_000001.9:g.43591045C>T NCBI36
NG_007525.1:g.19984C>T , LRG_510:g.19984C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000372470.9:c.*15C>T MANE Select ENSP00000361548.3:n.*15C>T
NM_005373.2:c.*15C>T , LRG_510t1:c.*15C>T NP_005364.1:n.*15C>T
XM_011541478.1:c.*15C>T XP_011539780.1:n.*15C>T
XM_017001320.1:c.*15C>T XP_016856809.1:n.*15C>T
NM_005373.3:c.*15C>T MANE Select NP_005364.1:n.*15C>T
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