Canonical Allele Identifier: CA807029
Gene: MPL HGNC NCBI

Linked Data

ClinVar Variation Id: 582171
ClinVar RCV Id: RCV002485769 RCV002534457 RCV003892568
dbSNP Id: rs770770219
ExAC: 1:43818340 T / C
gnomAD v2: 1-43818340-T-C
gnomAD v3: 1-43352669-T-C
gnomAD v4: 1-43352669-T-C
MyVariant Identifiers: chr1:g.43818340T>C (hg19) chr1:g.43352669T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.43352669T>C , CM000663.2:g.43352669T>C GRCh38
NC_000001.10:g.43818340T>C , CM000663.1:g.43818340T>C GRCh37
NC_000001.9:g.43590927T>C NCBI36
NG_007525.1:g.19866T>C , LRG_510:g.19866T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000372470.9:c.1805T>C MANE Select ENSP00000361548.3:p.Met602Thr
ENST00000413998.7:c.1784T>C ENSP00000414004.3:p.Met595Thr
ENST00000643351.1:c.463T>C
ENST00000372470.7:c.1805T>C ENSP00000361548.3:p.Met602Thr
NM_005373.2:c.1805T>C , LRG_510t1:c.1805T>C NP_005364.1:p.Met602Thr
XM_011541478.1:c.1784T>C XP_011539780.1:p.Met595Thr
XM_017001320.1:c.1976T>C XP_016856809.1:p.Met659Thr
NM_005373.3:c.1805T>C MANE Select NP_005364.1:p.Met602Thr
Search 100 bp 5'
Search 100 bp 3'