Canonical Allele Identifier: CA339981191

Gene: MPL

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.43346506C>T , CM000663.2:g.43346506C>T	GRCh38
NC_000001.10:g.43812177C>T , CM000663.1:g.43812177C>T	GRCh37
NC_000001.9:g.43584764C>T	NCBI36
NG_007525.1:g.13703C>T , LRG_510:g.13703C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_005373.3:c.1042C>T MANE Select	NP_005364.1:p.Gln348Ter
ENST00000372470.9:c.1042C>T MANE Select	ENSP00000361548.3:p.Gln348Ter
NM_005373.2:c.1042C>T , LRG_510t1:c.1042C>T	NP_005364.1:p.Gln348Ter
ENST00000372470.7:c.1042C>T	ENSP00000361548.3:p.Gln348Ter
ENST00000413998.6:c.1042C>T	ENSP00000414004.2:p.Gln348Ter
ENST00000413998.7:c.1021C>T	ENSP00000414004.3:p.Gln341Ter
ENST00000612993.1:c.1042C>T	ENSP00000480273.1:p.Gln348Ter
ENST00000638732.1:n.1042C>T
XM_011541478.1:c.1021C>T	XP_011539780.1:p.Gln341Ter
XM_017001320.1:c.1213C>T	XP_016856809.1:p.Gln405Ter