Canonical Allele Identifier: CA2645222491

Gene: MPL

Linked Data

• ClinVar Variation Id: 2943686
• ClinVar RCV Id: RCV003803244
• gnomAD v4: 1-43338739-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.43338739T>G , CM000663.2:g.43338739T>G	GRCh38
NC_000001.10:g.43804410T>G , CM000663.1:g.43804410T>G	GRCh37
NC_000001.9:g.43576997T>G	NCBI36
NG_007525.1:g.5936T>G , LRG_510:g.5936T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372470.9:c.391+19T>G MANE Select	ENSP00000361548.3:n.391+19T>G
ENST00000413998.7:c.370+19T>G	ENSP00000414004.3:n.370+19T>G
ENST00000638732.1:n.391+19T>G
ENST00000372470.7:c.391+19T>G	ENSP00000361548.3:n.391+19T>G
ENST00000413998.6:c.391+19T>G	ENSP00000414004.2:n.391+19T>G
ENST00000612993.1:c.391+19T>G	ENSP00000480273.1:n.391+19T>G
NM_005373.2:c.391+19T>G , LRG_510t1:c.391+19T>G	NP_005364.1:n.391+19T>G
XM_011541478.1:c.370+19T>G	XP_011539780.1:n.370+19T>G
XM_017001320.1:c.562+19T>G	XP_016856809.1:n.562+19T>G
NM_005373.3:c.391+19T>G MANE Select	NP_005364.1:n.391+19T>G