Canonical Allele Identifier: CA806646
Gene: MPL HGNC NCBI

Linked Data

ClinVar Variation Id: 372409
dbSNP Id: rs752453717
gnomAD v2: 1-43804396-G-C
gnomAD v3: 1-43338725-G-C
gnomAD v4: 1-43338725-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.43338725G>C , CM000663.2:g.43338725G>C GRCh38
NC_000001.10:g.43804396G>C , CM000663.1:g.43804396G>C GRCh37
NC_000001.9:g.43576983G>C NCBI36
NG_007525.1:g.5922G>C , LRG_510:g.5922G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000372470.9:c.391+5G>C MANE Select ENSP00000361548.3:n.391+5G>C
ENST00000413998.7:c.370+5G>C ENSP00000414004.3:n.370+5G>C
ENST00000638732.1:n.391+5G>C
ENST00000372470.7:c.391+5G>C ENSP00000361548.3:n.391+5G>C
ENST00000413998.6:c.391+5G>C ENSP00000414004.2:n.391+5G>C
ENST00000612993.1:c.391+5G>C ENSP00000480273.1:n.391+5G>C
NM_005373.2:c.391+5G>C , LRG_510t1:c.391+5G>C NP_005364.1:n.391+5G>C
XM_011541478.1:c.370+5G>C XP_011539780.1:n.370+5G>C
XM_017001320.1:c.562+5G>C XP_016856809.1:n.562+5G>C
NM_005373.3:c.391+5G>C MANE Select NP_005364.1:n.391+5G>C