Canonical Allele Identifier: CA339972452

Gene: MPL

Linked Data

• dbSNP Id: rs1647006325
• gnomAD v3: 1-43338100-T-A
• gnomAD v4: 1-43338100-T-A
• MyVariant Identifiers: chr1:g.43803771T>A (hg19) ; chr1:g.43338100T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.43338100T>A , CM000663.2:g.43338100T>A	GRCh38
NC_000001.10:g.43803771T>A , CM000663.1:g.43803771T>A	GRCh37
NC_000001.9:g.43576358T>A	NCBI36
NG_007525.1:g.5297T>A , LRG_510:g.5297T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000372470.9:c.81T>A MANE Select	ENSP00000361548.3:p.Asp27Glu
ENST00000413998.7:c.80-20T>A	ENSP00000414004.3:n.80-20T>A
ENST00000638732.1:n.81T>A
ENST00000372470.7:c.81T>A	ENSP00000361548.3:p.Asp27Glu
ENST00000413998.6:c.81T>A	ENSP00000414004.2:p.Asp27Glu
ENST00000612993.1:c.81T>A	ENSP00000480273.1:p.Asp27Glu
NM_005373.2:c.81T>A , LRG_510t1:c.81T>A	NP_005364.1:p.Asp27Glu
XM_011541478.1:c.80-20T>A	XP_011539780.1:n.80-20T>A
XM_017001320.1:c.252T>A	XP_016856809.1:p.Asp84Glu
NM_005373.3:c.81T>A MANE Select	NP_005364.1:p.Asp27Glu