Canonical Allele Identifier: CA163017

Gene: MPL

Linked Data

• ClinVar Variation Id: 135563
• ClinVar RCV Id: RCV000122423 ; RCV000254762 ; RCV000586535 ; RCV000763338 ; RCV000778237 ; RCV000801559 ; RCV000851882 ; RCV001330057 ; RCV003407528
• dbSNP Id: rs146249964
• ExAC: 1:43803600 T / A
• gnomAD v2: 1-43803600-T-A
• gnomAD v3: 1-43337929-T-A
• gnomAD v4: 1-43337929-T-A
• MyVariant Identifiers: chr1:g.43803600T>A (hg19) ; chr1:g.43337929T>A (hg38)
• PubMed: PMID:16470591 ; PMID:21489838 ; PMID:24728327

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.43337929T>A , CM000663.2:g.43337929T>A	GRCh38
NC_000001.10:g.43803600T>A , CM000663.1:g.43803600T>A	GRCh37
NC_000001.9:g.43576187T>A	NCBI36
NG_007525.1:g.5126T>A , LRG_510:g.5126T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000372470.9:c.79+2T>A MANE Select	ENSP00000361548.3:n.79+2T>A
ENST00000413998.7:c.79+2T>A	ENSP00000414004.3:n.79+2T>A
ENST00000638732.1:n.79+2T>A
ENST00000372470.7:c.79+2T>A	ENSP00000361548.3:n.79+2T>A
ENST00000413998.6:c.79+2T>A	ENSP00000414004.2:n.79+2T>A
ENST00000612993.1:c.79+2T>A	ENSP00000480273.1:n.79+2T>A
NM_005373.2:c.79+2T>A , LRG_510t1:c.79+2T>A	NP_005364.1:n.79+2T>A
XM_011541478.1:c.79+2T>A	XP_011539780.1:n.79+2T>A
XM_017001320.1:c.81T>A	XP_016856809.1:p.Gly27=
NM_005373.3:c.79+2T>A MANE Select	NP_005364.1:n.79+2T>A