Canonical Allele Identifier: CA339977942
Community Standard Title: NM_005373.3(MPL):c.948C>A (p.Tyr316Ter)
Gene: MPL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.43340481C>A , CM000663.2:g.43340481C>A GRCh38
NC_000001.10:g.43806152C>A , CM000663.1:g.43806152C>A GRCh37
NC_000001.9:g.43578739C>A NCBI36
NG_007525.1:g.7678C>A , LRG_510:g.7678C>A

Transcript Alleles

HGVS Amino-acid Change
NM_005373.3:c.948C>A MANE Select NP_005364.1:p.Tyr316Ter
ENST00000372470.9:c.948C>A MANE Select ENSP00000361548.3:p.Tyr316Ter
NM_005373.2:c.948C>A , LRG_510t1:c.948C>A NP_005364.1:p.Tyr316Ter
ENST00000372470.7:c.948C>A ENSP00000361548.3:p.Tyr316Ter
ENST00000413998.6:c.948C>A ENSP00000414004.2:p.Tyr316Ter
ENST00000413998.7:c.927C>A ENSP00000414004.3:p.Tyr309Ter
ENST00000612993.1:c.948C>A ENSP00000480273.1:p.Tyr316Ter
ENST00000638732.1:n.948C>A
XM_011541478.1:c.927C>A XP_011539780.1:p.Tyr309Ter
XM_017001320.1:c.1119C>A XP_016856809.1:p.Tyr373Ter