Canonical Allele Identifier: CA160821

Gene: MPL

Linked Data

• ClinVar Variation Id: 134825
• ClinVar RCV Id: RCV000121540 ; RCV000371334 ; RCV000467700 ; RCV001594849
• dbSNP Id: rs12731981
• ExAC: 1:43804340 G / A
• gnomAD v2: 1-43804340-G-A
• gnomAD v3: 1-43338669-G-A
• gnomAD v4: 1-43338669-G-A
• MyVariant Identifiers: chr1:g.43804340G>A (hg19) ; chr1:g.43338669G>A (hg38)
• PubMed: PMID:11133753 ; PMID:24728327

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.43338669G>A , CM000663.2:g.43338669G>A	GRCh38
NC_000001.10:g.43804340G>A , CM000663.1:g.43804340G>A	GRCh37
NC_000001.9:g.43576927G>A	NCBI36
NG_007525.1:g.5866G>A , LRG_510:g.5866G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000372470.9:c.340G>A MANE Select	ENSP00000361548.3:p.Val114Met
ENST00000413998.7:c.319G>A	ENSP00000414004.3:p.Val107Met
ENST00000638732.1:n.340G>A
ENST00000372470.7:c.340G>A	ENSP00000361548.3:p.Val114Met
ENST00000413998.6:c.340G>A	ENSP00000414004.2:p.Val114Met
ENST00000612993.1:c.340G>A	ENSP00000480273.1:p.Val114Met
NM_005373.2:c.340G>A , LRG_510t1:c.340G>A	NP_005364.1:p.Val114Met
XM_011541478.1:c.319G>A	XP_011539780.1:p.Val107Met
XM_017001320.1:c.511G>A	XP_016856809.1:p.Val171Met
NM_005373.3:c.340G>A MANE Select	NP_005364.1:p.Val114Met