Canonical Allele Identifier: CA339994468
Gene: MPL HGNC NCBI

Linked Data

dbSNP Id: rs1647101511
gnomAD v4: 1-43352670-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.43352670G>A , CM000663.2:g.43352670G>A GRCh38
NC_000001.10:g.43818341G>A , CM000663.1:g.43818341G>A GRCh37
NC_000001.9:g.43590928G>A NCBI36
NG_007525.1:g.19867G>A , LRG_510:g.19867G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000372470.9:c.1806G>A MANE Select ENSP00000361548.3:p.Met602Ile
ENST00000413998.7:c.1785G>A ENSP00000414004.3:p.Met595Ile
ENST00000643351.1:c.464G>A
ENST00000372470.7:c.1806G>A ENSP00000361548.3:p.Met602Ile
NM_005373.2:c.1806G>A , LRG_510t1:c.1806G>A NP_005364.1:p.Met602Ile
XM_011541478.1:c.1785G>A XP_011539780.1:p.Met595Ile
XM_017001320.1:c.1977G>A XP_016856809.1:p.Met659Ile
NM_005373.3:c.1806G>A MANE Select NP_005364.1:p.Met602Ile