Canonical Allele Identifier: CA339973444

Gene: MPL

Linked Data

• dbSNP Id: rs1215318596
• gnomAD v2: 1-43804274-G-A
• gnomAD v3: 1-43338603-G-A
• gnomAD v4: 1-43338603-G-A
• COSMIC: COSM4008162 ; COSM4008163
• MyVariant Identifiers: chr1:g.43804274G>A (hg19) ; chr1:g.43338603G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.43338603G>A , CM000663.2:g.43338603G>A	GRCh38
NC_000001.10:g.43804274G>A , CM000663.1:g.43804274G>A	GRCh37
NC_000001.9:g.43576861G>A	NCBI36
NG_007525.1:g.5800G>A , LRG_510:g.5800G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372470.9:c.274G>A MANE Select	ENSP00000361548.3:p.Val92Met
ENST00000413998.7:c.253G>A	ENSP00000414004.3:p.Val85Met
ENST00000638732.1:n.274G>A
ENST00000372470.7:c.274G>A	ENSP00000361548.3:p.Val92Met
ENST00000413998.6:c.274G>A	ENSP00000414004.2:p.Val92Met
ENST00000612993.1:c.274G>A	ENSP00000480273.1:p.Val92Met
NM_005373.2:c.274G>A , LRG_510t1:c.274G>A	NP_005364.1:p.Val92Met
XM_011541478.1:c.253G>A	XP_011539780.1:p.Val85Met
XM_017001320.1:c.445G>A	XP_016856809.1:p.Val149Met
NM_005373.3:c.274G>A MANE Select	NP_005364.1:p.Val92Met