Canonical Allele Identifier: CA1001097408

Gene: MPL

Linked Data

• dbSNP Id: rs1647008751
• gnomAD v3: 1-43338419-C-A
• gnomAD v4: 1-43338419-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.43338419C>A , CM000663.2:g.43338419C>A	GRCh38
NC_000001.10:g.43804090C>A , CM000663.1:g.43804090C>A	GRCh37
NC_000001.9:g.43576677C>A	NCBI36
NG_007525.1:g.5616C>A , LRG_510:g.5616C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372470.9:c.213-123C>A MANE Select	ENSP00000361548.3:n.213-123C>A
ENST00000413998.7:c.192-123C>A	ENSP00000414004.3:n.192-123C>A
ENST00000638732.1:n.213-123C>A
ENST00000372470.7:c.213-123C>A	ENSP00000361548.3:n.213-123C>A
ENST00000413998.6:c.213-123C>A	ENSP00000414004.2:n.213-123C>A
ENST00000612993.1:c.213-123C>A	ENSP00000480273.1:n.213-123C>A
NM_005373.2:c.213-123C>A , LRG_510t1:c.213-123C>A	NP_005364.1:n.213-123C>A
XM_011541478.1:c.192-123C>A	XP_011539780.1:n.192-123C>A
XM_017001320.1:c.384-123C>A	XP_016856809.1:n.384-123C>A
NM_005373.3:c.213-123C>A MANE Select	NP_005364.1:n.213-123C>A