Canonical Allele Identifier: CA807005

Gene: MPL

Linked Data

• ClinVar Variation Id: 297410
• ClinVar RCV Id: RCV000309183 ; RCV000390481 ; RCV000464665 ; RCV001356726 ; RCV001820856
• dbSNP Id: rs200460456
• ExAC: 1:43818179 T / A
• gnomAD v2: 1-43818179-T-A
• gnomAD v3: 1-43352508-T-A
• gnomAD v4: 1-43352508-T-A
• MyVariant Identifiers: chr1:g.43818179T>A (hg19) ; chr1:g.43352508T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.43352508T>A , CM000663.2:g.43352508T>A	GRCh38
NC_000001.10:g.43818179T>A , CM000663.1:g.43818179T>A	GRCh37
NC_000001.9:g.43590766T>A	NCBI36
NG_007525.1:g.19705T>A , LRG_510:g.19705T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372470.9:c.1654-10T>A MANE Select	ENSP00000361548.3:n.1654-10T>A
ENST00000413998.7:c.1633-10T>A	ENSP00000414004.3:n.1633-10T>A
ENST00000643351.1:c.312-10T>A
ENST00000372470.7:c.1654-10T>A	ENSP00000361548.3:n.1654-10T>A
NM_005373.2:c.1654-10T>A , LRG_510t1:c.1654-10T>A	NP_005364.1:n.1654-10T>A
XM_011541478.1:c.1633-10T>A	XP_011539780.1:n.1633-10T>A
XM_017001320.1:c.1825-10T>A	XP_016856809.1:n.1825-10T>A
NM_005373.3:c.1654-10T>A MANE Select	NP_005364.1:n.1654-10T>A