Canonical Allele Identifier: CA806573
Gene: MPL HGNC NCBI

Linked Data

dbSNP Id: rs778905657
gnomAD v2: 1-43803751-C-G
gnomAD v4: 1-43338080-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.43338080C>G , CM000663.2:g.43338080C>G GRCh38
NC_000001.10:g.43803751C>G , CM000663.1:g.43803751C>G GRCh37
NC_000001.9:g.43576338C>G NCBI36
NG_007525.1:g.5277C>G , LRG_510:g.5277C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000372470.9:c.80-19C>G MANE Select ENSP00000361548.3:n.80-19C>G
ENST00000413998.7:c.80-40C>G ENSP00000414004.3:n.80-40C>G
ENST00000638732.1:n.80-19C>G
ENST00000372470.7:c.80-19C>G ENSP00000361548.3:n.80-19C>G
ENST00000413998.6:c.80-19C>G ENSP00000414004.2:n.80-19C>G
ENST00000612993.1:c.80-19C>G ENSP00000480273.1:n.80-19C>G
NM_005373.2:c.80-19C>G , LRG_510t1:c.80-19C>G NP_005364.1:n.80-19C>G
XM_011541478.1:c.80-40C>G XP_011539780.1:n.80-40C>G
XM_017001320.1:c.232C>G XP_016856809.1:p.Leu78Val
NM_005373.3:c.80-19C>G MANE Select NP_005364.1:n.80-19C>G