Canonical Allele Identifier: CA339976052
Community Standard Title: NM_005373.3(MPL):c.695C>A (p.Ser232Ter)
Gene: MPL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.43339968C>A , CM000663.2:g.43339968C>A GRCh38
NC_000001.10:g.43805639C>A , CM000663.1:g.43805639C>A GRCh37
NC_000001.9:g.43578226C>A NCBI36
NG_007525.1:g.7165C>A , LRG_510:g.7165C>A

Transcript Alleles

HGVS Amino-acid Change
NM_005373.3:c.695C>A MANE Select NP_005364.1:p.Ser232Ter
ENST00000372470.9:c.695C>A MANE Select ENSP00000361548.3:p.Ser232Ter
NM_005373.2:c.695C>A , LRG_510t1:c.695C>A NP_005364.1:p.Ser232Ter
ENST00000372470.7:c.695C>A ENSP00000361548.3:p.Ser232Ter
ENST00000413998.6:c.695C>A ENSP00000414004.2:p.Ser232Ter
ENST00000413998.7:c.674C>A ENSP00000414004.3:p.Ser225Ter
ENST00000612993.1:c.695C>A ENSP00000480273.1:p.Ser232Ter
ENST00000638732.1:n.695C>A
XM_011541478.1:c.674C>A XP_011539780.1:p.Ser225Ter
XM_017001320.1:c.866C>A XP_016856809.1:p.Ser289Ter