Canonical Allele Identifier: CA339974311
Community Standard Title: NM_005373.3(MPL):c.407C>T (p.Pro136Leu)
Gene: MPL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.43339286C>T , CM000663.2:g.43339286C>T GRCh38
NC_000001.10:g.43804957C>T , CM000663.1:g.43804957C>T GRCh37
NC_000001.9:g.43577544C>T NCBI36
NG_007525.1:g.6483C>T , LRG_510:g.6483C>T

Transcript Alleles

HGVS Amino-acid Change
NM_005373.3:c.407C>T MANE Select NP_005364.1:p.Pro136Leu
ENST00000372470.9:c.407C>T MANE Select ENSP00000361548.3:p.Pro136Leu
NM_005373.2:c.407C>T , LRG_510t1:c.407C>T NP_005364.1:p.Pro136Leu
ENST00000372470.7:c.407C>T ENSP00000361548.3:p.Pro136Leu
ENST00000413998.6:c.407C>T ENSP00000414004.2:p.Pro136Leu
ENST00000413998.7:c.386C>T ENSP00000414004.3:p.Pro129Leu
ENST00000612993.1:c.407C>T ENSP00000480273.1:p.Pro136Leu
ENST00000638732.1:n.407C>T
XM_011541478.1:c.386C>T XP_011539780.1:p.Pro129Leu
XM_017001320.1:c.578C>T XP_016856809.1:p.Pro193Leu