Canonical Allele Identifier: CA417418067
Gene: MPL HGNC NCBI

Linked Data

dbSNP Id: rs1647011314
MyVariant Identifiers: chr1:g.43804390A>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.43338719A>T , CM000663.2:g.43338719A>T GRCh38
NC_000001.10:g.43804390A>T , CM000663.1:g.43804390A>T GRCh37
NC_000001.9:g.43576977A>T NCBI36
NG_007525.1:g.5916A>T , LRG_510:g.5916A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000372470.9:c.390A>T MANE Select ENSP00000361548.3:p.Val130=
ENST00000413998.7:c.369A>T ENSP00000414004.3:p.Val123=
ENST00000638732.1:n.390A>T
ENST00000372470.7:c.390A>T ENSP00000361548.3:p.Val130=
ENST00000413998.6:c.390A>T ENSP00000414004.2:p.Val130=
ENST00000612993.1:c.390A>T ENSP00000480273.1:p.Val130=
NM_005373.2:c.390A>T , LRG_510t1:c.390A>T NP_005364.1:p.Val130=
XM_011541478.1:c.369A>T XP_011539780.1:p.Val123=
XM_017001320.1:c.561A>T XP_016856809.1:p.Val187=
NM_005373.3:c.390A>T MANE Select NP_005364.1:p.Val130=