Canonical Allele Identifier: CA417417905
Gene: MPL HGNC NCBI

Linked Data

dbSNP Id: rs2153916543
MyVariant Identifiers: chr1:g.43804369A>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.43338698A>T , CM000663.2:g.43338698A>T GRCh38
NC_000001.10:g.43804369A>T , CM000663.1:g.43804369A>T GRCh37
NC_000001.9:g.43576956A>T NCBI36
NG_007525.1:g.5895A>T , LRG_510:g.5895A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000372470.9:c.369A>T MANE Select ENSP00000361548.3:p.Arg123=
ENST00000413998.7:c.348A>T ENSP00000414004.3:p.Arg116=
ENST00000638732.1:n.369A>T
ENST00000372470.7:c.369A>T ENSP00000361548.3:p.Arg123=
ENST00000413998.6:c.369A>T ENSP00000414004.2:p.Arg123=
ENST00000612993.1:c.369A>T ENSP00000480273.1:p.Arg123=
NM_005373.2:c.369A>T , LRG_510t1:c.369A>T NP_005364.1:p.Arg123=
XM_011541478.1:c.348A>T XP_011539780.1:p.Arg116=
XM_017001320.1:c.540A>T XP_016856809.1:p.Arg180=
NM_005373.3:c.369A>T MANE Select NP_005364.1:p.Arg123=