Canonical Allele Identifier: CA339973116
Community Standard Title: NM_005373.3(MPL):c.205T>C (p.Tyr69His)
Gene: MPL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.43338224T>C , CM000663.2:g.43338224T>C GRCh38
NC_000001.10:g.43803895T>C , CM000663.1:g.43803895T>C GRCh37
NC_000001.9:g.43576482T>C NCBI36
NG_007525.1:g.5421T>C , LRG_510:g.5421T>C

Transcript Alleles

HGVS Amino-acid Change
NM_005373.3:c.205T>C MANE Select NP_005364.1:p.Tyr69His
ENST00000372470.9:c.205T>C MANE Select ENSP00000361548.3:p.Tyr69His
NM_005373.2:c.205T>C , LRG_510t1:c.205T>C NP_005364.1:p.Tyr69His
ENST00000372470.7:c.205T>C ENSP00000361548.3:p.Tyr69His
ENST00000413998.6:c.205T>C ENSP00000414004.2:p.Tyr69His
ENST00000413998.7:c.184T>C ENSP00000414004.3:p.Tyr62His
ENST00000612993.1:c.205T>C ENSP00000480273.1:p.Tyr69His
ENST00000638732.1:n.205T>C
XM_011541478.1:c.184T>C XP_011539780.1:p.Tyr62His
XM_017001320.1:c.376T>C XP_016856809.1:p.Tyr126His