Canonical Allele Identifier: CA806636
Gene: MPL HGNC NCBI

Linked Data

ClinVar Variation Id: 265248
dbSNP Id: rs750046020
gnomAD v2: 1-43804317-C-T
gnomAD v3: 1-43338646-C-T
gnomAD v4: 1-43338646-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.43338646C>T , CM000663.2:g.43338646C>T GRCh38
NC_000001.10:g.43804317C>T , CM000663.1:g.43804317C>T GRCh37
NC_000001.9:g.43576904C>T NCBI36
NG_007525.1:g.5843C>T , LRG_510:g.5843C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000372470.9:c.317C>T MANE Select ENSP00000361548.3:p.Pro106Leu
ENST00000413998.7:c.296C>T ENSP00000414004.3:p.Pro99Leu
ENST00000638732.1:n.317C>T
ENST00000372470.7:c.317C>T ENSP00000361548.3:p.Pro106Leu
ENST00000413998.6:c.317C>T ENSP00000414004.2:p.Pro106Leu
ENST00000612993.1:c.317C>T ENSP00000480273.1:p.Pro106Leu
NM_005373.2:c.317C>T , LRG_510t1:c.317C>T NP_005364.1:p.Pro106Leu
XM_011541478.1:c.296C>T XP_011539780.1:p.Pro99Leu
XM_017001320.1:c.488C>T XP_016856809.1:p.Pro163Leu
NM_005373.3:c.317C>T MANE Select NP_005364.1:p.Pro106Leu