Canonical Allele Identifier: CA339987124
Community Standard Title: NM_005373.3(MPL):c.1462G>T (p.Glu488Ter)
Gene: MPL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.43348996G>T , CM000663.2:g.43348996G>T GRCh38
NC_000001.10:g.43814667G>T , CM000663.1:g.43814667G>T GRCh37
NC_000001.9:g.43587254G>T NCBI36
NG_007525.1:g.16193G>T , LRG_510:g.16193G>T

Transcript Alleles

HGVS Amino-acid Change
NM_005373.3:c.1462G>T MANE Select NP_005364.1:p.Glu488Ter
ENST00000372470.9:c.1462G>T MANE Select ENSP00000361548.3:p.Glu488Ter
NM_005373.2:c.1462G>T , LRG_510t1:c.1462G>T NP_005364.1:p.Glu488Ter
ENST00000372470.7:c.1462G>T ENSP00000361548.3:p.Glu488Ter
ENST00000413998.6:c.1462G>T ENSP00000414004.2:p.Glu488Ter
ENST00000413998.7:c.1441G>T ENSP00000414004.3:p.Glu481Ter
ENST00000612993.1:c.1462G>T ENSP00000480273.1:p.Glu488Ter
ENST00000638732.1:n.1462G>T
XM_011541478.1:c.1441G>T XP_011539780.1:p.Glu481Ter
XM_017001320.1:c.1633G>T XP_016856809.1:p.Glu545Ter