Canonical Allele Identifier: CA339973608
Gene: MPL HGNC NCBI

Linked Data

ClinVar Variation Id: 653595
ClinVar RCV Id: RCV000809390
dbSNP Id: rs1196161699
gnomAD v3: 1-43338640-T-C
gnomAD v4: 1-43338640-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.43338640T>C , CM000663.2:g.43338640T>C GRCh38
NC_000001.10:g.43804311T>C , CM000663.1:g.43804311T>C GRCh37
NC_000001.9:g.43576898T>C NCBI36
NG_007525.1:g.5837T>C , LRG_510:g.5837T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000372470.9:c.311T>C MANE Select ENSP00000361548.3:p.Phe104Ser
ENST00000413998.7:c.290T>C ENSP00000414004.3:p.Phe97Ser
ENST00000638732.1:n.311T>C
ENST00000372470.7:c.311T>C ENSP00000361548.3:p.Phe104Ser
ENST00000413998.6:c.311T>C ENSP00000414004.2:p.Phe104Ser
ENST00000612993.1:c.311T>C ENSP00000480273.1:p.Phe104Ser
NM_005373.2:c.311T>C , LRG_510t1:c.311T>C NP_005364.1:p.Phe104Ser
XM_011541478.1:c.290T>C XP_011539780.1:p.Phe97Ser
XM_017001320.1:c.482T>C XP_016856809.1:p.Phe161Ser
NM_005373.3:c.311T>C MANE Select NP_005364.1:p.Phe104Ser