Canonical Allele Identifier: CA339981113
Community Standard Title: NM_005373.3(MPL):c.1033C>T (p.Gln345Ter)
Gene: MPL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.43346497C>T , CM000663.2:g.43346497C>T GRCh38
NC_000001.10:g.43812168C>T , CM000663.1:g.43812168C>T GRCh37
NC_000001.9:g.43584755C>T NCBI36
NG_007525.1:g.13694C>T , LRG_510:g.13694C>T

Transcript Alleles

HGVS Amino-acid Change
NM_005373.3:c.1033C>T MANE Select NP_005364.1:p.Gln345Ter
ENST00000372470.9:c.1033C>T MANE Select ENSP00000361548.3:p.Gln345Ter
NM_005373.2:c.1033C>T , LRG_510t1:c.1033C>T NP_005364.1:p.Gln345Ter
ENST00000372470.7:c.1033C>T ENSP00000361548.3:p.Gln345Ter
ENST00000413998.6:c.1033C>T ENSP00000414004.2:p.Gln345Ter
ENST00000413998.7:c.1012C>T ENSP00000414004.3:p.Gln338Ter
ENST00000612993.1:c.1033C>T ENSP00000480273.1:p.Gln345Ter
ENST00000638732.1:n.1033C>T
XM_011541478.1:c.1012C>T XP_011539780.1:p.Gln338Ter
XM_017001320.1:c.1204C>T XP_016856809.1:p.Gln402Ter