Canonical Allele Identifier: CA2645222485

Gene: MPL

Linked Data

• gnomAD v4: 1-43338737-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.43338737T>C , CM000663.2:g.43338737T>C	GRCh38
NC_000001.10:g.43804408T>C , CM000663.1:g.43804408T>C	GRCh37
NC_000001.9:g.43576995T>C	NCBI36
NG_007525.1:g.5934T>C , LRG_510:g.5934T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372470.9:c.391+17T>C MANE Select	ENSP00000361548.3:n.391+17T>C
ENST00000413998.7:c.370+17T>C	ENSP00000414004.3:n.370+17T>C
ENST00000638732.1:n.391+17T>C
ENST00000372470.7:c.391+17T>C	ENSP00000361548.3:n.391+17T>C
ENST00000413998.6:c.391+17T>C	ENSP00000414004.2:n.391+17T>C
ENST00000612993.1:c.391+17T>C	ENSP00000480273.1:n.391+17T>C
NM_005373.2:c.391+17T>C , LRG_510t1:c.391+17T>C	NP_005364.1:n.391+17T>C
XM_011541478.1:c.370+17T>C	XP_011539780.1:n.370+17T>C
XM_017001320.1:c.562+17T>C	XP_016856809.1:n.562+17T>C
NM_005373.3:c.391+17T>C MANE Select	NP_005364.1:n.391+17T>C