Canonical Allele Identifier: CA339973709

Gene: MPL

Linked Data

• dbSNP Id: rs1647010700
• gnomAD v4: 1-43338658-G-A
• MyVariant Identifiers: chr1:g.43804329G>A (hg19) ; chr1:g.43338658G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.43338658G>A , CM000663.2:g.43338658G>A	GRCh38
NC_000001.10:g.43804329G>A , CM000663.1:g.43804329G>A	GRCh37
NC_000001.9:g.43576916G>A	NCBI36
NG_007525.1:g.5855G>A , LRG_510:g.5855G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372470.9:c.329G>A MANE Select	ENSP00000361548.3:p.Trp110Ter
ENST00000413998.7:c.308G>A	ENSP00000414004.3:p.Trp103Ter
ENST00000638732.1:n.329G>A
ENST00000372470.7:c.329G>A	ENSP00000361548.3:p.Trp110Ter
ENST00000413998.6:c.329G>A	ENSP00000414004.2:p.Trp110Ter
ENST00000612993.1:c.329G>A	ENSP00000480273.1:p.Trp110Ter
NM_005373.2:c.329G>A , LRG_510t1:c.329G>A	NP_005364.1:p.Trp110Ter
XM_011541478.1:c.308G>A	XP_011539780.1:p.Trp103Ter
XM_017001320.1:c.500G>A	XP_016856809.1:p.Trp167Ter
NM_005373.3:c.329G>A MANE Select	NP_005364.1:p.Trp110Ter