Canonical Allele Identifier: CA339973396

Gene: MPL

Linked Data

• dbSNP Id: rs2153916445
• gnomAD v4: 1-43338577-G-A
• MyVariant Identifiers: chr1:g.43804248G>A (hg19) ; chr1:g.43338577G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.43338577G>A , CM000663.2:g.43338577G>A	GRCh38
NC_000001.10:g.43804248G>A , CM000663.1:g.43804248G>A	GRCh37
NC_000001.9:g.43576835G>A	NCBI36
NG_007525.1:g.5774G>A , LRG_510:g.5774G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372470.9:c.248G>A MANE Select	ENSP00000361548.3:p.Ser83Asn
ENST00000413998.7:c.227G>A	ENSP00000414004.3:p.Ser76Asn
ENST00000638732.1:n.248G>A
ENST00000372470.7:c.248G>A	ENSP00000361548.3:p.Ser83Asn
ENST00000413998.6:c.248G>A	ENSP00000414004.2:p.Ser83Asn
ENST00000612993.1:c.248G>A	ENSP00000480273.1:p.Ser83Asn
NM_005373.2:c.248G>A , LRG_510t1:c.248G>A	NP_005364.1:p.Ser83Asn
XM_011541478.1:c.227G>A	XP_011539780.1:p.Ser76Asn
XM_017001320.1:c.419G>A	XP_016856809.1:p.Ser140Asn
NM_005373.3:c.248G>A MANE Select	NP_005364.1:p.Ser83Asn