Canonical Allele Identifier: CA123790
Gene: MPL HGNC NCBI

Linked Data

ClinVar Variation Id: 14163
ClinVar RCV Id: RCV000015226 RCV000418818 RCV000425381 RCV000436519 RCV001543455
dbSNP Id: rs121913614
COSMIC: COSM27286 COSM4383481
MyVariant Identifiers: chr1:g.43814979G>A (hg19) chr1:g.43349308G>A (hg38)
PubMed: PMID:14764528 PMID:18451306 PMID:18528423 PMID:19483125 PMID:20151976 PMID:23970983
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.43349308G>A , CM000663.2:g.43349308G>A GRCh38
NC_000001.10:g.43814979G>A , CM000663.1:g.43814979G>A GRCh37
NC_000001.9:g.43587566G>A NCBI36
NG_007525.1:g.16505G>A , LRG_510:g.16505G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000372470.9:c.1514G>A MANE Select ENSP00000361548.3:p.Ser505Asn
ENST00000413998.7:c.1493G>A ENSP00000414004.3:p.Ser498Asn
ENST00000638732.1:n.1514G>A
ENST00000643351.1:c.46G>A
ENST00000372470.7:c.1514G>A ENSP00000361548.3:p.Ser505Asn
ENST00000413998.6:c.1514G>A ENSP00000414004.2:p.Ser505Asn
ENST00000612993.1:c.1514G>A ENSP00000480273.1:p.Ser505Asn
NM_005373.2:c.1514G>A , LRG_510t1:c.1514G>A NP_005364.1:p.Ser505Asn
XM_011541478.1:c.1493G>A XP_011539780.1:p.Ser498Asn
XM_017001320.1:c.1685G>A XP_016856809.1:p.Ser562Asn
NM_005373.3:c.1514G>A MANE Select NP_005364.1:p.Ser505Asn
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