Canonical Allele Identifier: CA1001097282
Gene: MPL HGNC NCBI

Linked Data

dbSNP Id: rs1647005358
gnomAD v3: 1-43337990-C-G
gnomAD v4: 1-43337990-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.43337990C>G , CM000663.2:g.43337990C>G GRCh38
NC_000001.10:g.43803661C>G , CM000663.1:g.43803661C>G GRCh37
NC_000001.9:g.43576248C>G NCBI36
NG_007525.1:g.5187C>G , LRG_510:g.5187C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000372470.9:c.79+63C>G MANE Select ENSP00000361548.3:n.79+63C>G
ENST00000413998.7:c.79+63C>G ENSP00000414004.3:n.79+63C>G
ENST00000638732.1:n.79+63C>G
ENST00000372470.7:c.79+63C>G ENSP00000361548.3:n.79+63C>G
ENST00000413998.6:c.79+63C>G ENSP00000414004.2:n.79+63C>G
ENST00000612993.1:c.79+63C>G ENSP00000480273.1:n.79+63C>G
NM_005373.2:c.79+63C>G , LRG_510t1:c.79+63C>G NP_005364.1:n.79+63C>G
XM_011541478.1:c.79+63C>G XP_011539780.1:n.79+63C>G
XM_017001320.1:c.142C>G XP_016856809.1:p.Gln48Glu
NM_005373.3:c.79+63C>G MANE Select NP_005364.1:n.79+63C>G