Canonical Allele Identifier: CA339972062
Gene: MPL HGNC NCBI

Linked Data

dbSNP Id: rs1557462648
gnomAD v4: 1-43337888-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.43337888C>T , CM000663.2:g.43337888C>T GRCh38
NC_000001.10:g.43803559C>T , CM000663.1:g.43803559C>T GRCh37
NC_000001.9:g.43576146C>T NCBI36
NG_007525.1:g.5085C>T , LRG_510:g.5085C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000372470.9:c.40C>T MANE Select ENSP00000361548.3:p.Leu14Phe
ENST00000413998.7:c.40C>T ENSP00000414004.3:p.Leu14Phe
ENST00000638732.1:n.40C>T
ENST00000372470.7:c.40C>T ENSP00000361548.3:p.Leu14Phe
ENST00000413998.6:c.40C>T ENSP00000414004.2:p.Leu14Phe
ENST00000612993.1:c.40C>T ENSP00000480273.1:p.Leu14Phe
NM_005373.2:c.40C>T , LRG_510t1:c.40C>T NP_005364.1:p.Leu14Phe
XM_011541478.1:c.40C>T XP_011539780.1:p.Leu14Phe
XM_017001320.1:c.40C>T XP_016856809.1:p.Leu14Phe
NM_005373.3:c.40C>T MANE Select NP_005364.1:p.Leu14Phe