Canonical Allele Identifier: CA339983089
Community Standard Title: NM_005373.3(MPL):c.1247G>A (p.Trp416Ter)
Gene: MPL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.43346873G>A , CM000663.2:g.43346873G>A GRCh38
NC_000001.10:g.43812544G>A , CM000663.1:g.43812544G>A GRCh37
NC_000001.9:g.43585131G>A NCBI36
NG_007525.1:g.14070G>A , LRG_510:g.14070G>A

Transcript Alleles

HGVS Amino-acid Change
NM_005373.3:c.1247G>A MANE Select NP_005364.1:p.Trp416Ter
ENST00000372470.9:c.1247G>A MANE Select ENSP00000361548.3:p.Trp416Ter
NM_005373.2:c.1247G>A , LRG_510t1:c.1247G>A NP_005364.1:p.Trp416Ter
ENST00000372470.7:c.1247G>A ENSP00000361548.3:p.Trp416Ter
ENST00000413998.6:c.1247G>A ENSP00000414004.2:p.Trp416Ter
ENST00000413998.7:c.1226G>A ENSP00000414004.3:p.Trp409Ter
ENST00000612993.1:c.1247G>A ENSP00000480273.1:p.Trp416Ter
ENST00000638732.1:n.1247G>A
XM_011541478.1:c.1226G>A XP_011539780.1:p.Trp409Ter
XM_017001320.1:c.1418G>A XP_016856809.1:p.Trp473Ter