Canonical Allele Identifier: CA522806075
Gene: MPL HGNC NCBI

Linked Data

ClinVar Variation Id: 2936896
ClinVar RCV Id: RCV003799134
dbSNP Id: rs1352217387
gnomAD v2: 1-43803759-C-A
gnomAD v4: 1-43338088-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.43338088C>A , CM000663.2:g.43338088C>A GRCh38
NC_000001.10:g.43803759C>A , CM000663.1:g.43803759C>A GRCh37
NC_000001.9:g.43576346C>A NCBI36
NG_007525.1:g.5285C>A , LRG_510:g.5285C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000372470.9:c.80-11C>A MANE Select ENSP00000361548.3:n.80-11C>A
ENST00000413998.7:c.80-32C>A ENSP00000414004.3:n.80-32C>A
ENST00000638732.1:n.80-11C>A
ENST00000372470.7:c.80-11C>A ENSP00000361548.3:n.80-11C>A
ENST00000413998.6:c.80-11C>A ENSP00000414004.2:n.80-11C>A
ENST00000612993.1:c.80-11C>A ENSP00000480273.1:n.80-11C>A
NM_005373.2:c.80-11C>A , LRG_510t1:c.80-11C>A NP_005364.1:n.80-11C>A
XM_011541478.1:c.80-32C>A XP_011539780.1:n.80-32C>A
XM_017001320.1:c.240C>A XP_016856809.1:p.Ser80Arg
NM_005373.3:c.80-11C>A MANE Select NP_005364.1:n.80-11C>A