Canonical Allele Identifier: CA339973612

Gene: MPL

Linked Data

• gnomAD v4: 1-43338641-C-A
• MyVariant Identifiers: chr1:g.43804312C>A (hg19) ; chr1:g.43338641C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.43338641C>A , CM000663.2:g.43338641C>A	GRCh38
NC_000001.10:g.43804312C>A , CM000663.1:g.43804312C>A	GRCh37
NC_000001.9:g.43576899C>A	NCBI36
NG_007525.1:g.5838C>A , LRG_510:g.5838C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372470.9:c.312C>A MANE Select	ENSP00000361548.3:p.Phe104Leu
ENST00000413998.7:c.291C>A	ENSP00000414004.3:p.Phe97Leu
ENST00000638732.1:n.312C>A
ENST00000372470.7:c.312C>A	ENSP00000361548.3:p.Phe104Leu
ENST00000413998.6:c.312C>A	ENSP00000414004.2:p.Phe104Leu
ENST00000612993.1:c.312C>A	ENSP00000480273.1:p.Phe104Leu
NM_005373.2:c.312C>A , LRG_510t1:c.312C>A	NP_005364.1:p.Phe104Leu
XM_011541478.1:c.291C>A	XP_011539780.1:p.Phe97Leu
XM_017001320.1:c.483C>A	XP_016856809.1:p.Phe161Leu
NM_005373.3:c.312C>A MANE Select	NP_005364.1:p.Phe104Leu