Canonical Allele Identifier: CA339994511

Gene: MPL

Linked Data

• MyVariant Identifiers: chr1:g.43818346T>A (hg19) ; chr1:g.43352675T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.43352675T>A , CM000663.2:g.43352675T>A	GRCh38
NC_000001.10:g.43818346T>A , CM000663.1:g.43818346T>A	GRCh37
NC_000001.9:g.43590933T>A	NCBI36
NG_007525.1:g.19872T>A , LRG_510:g.19872T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000372470.9:c.1811T>A MANE Select	ENSP00000361548.3:p.Leu604Gln
ENST00000413998.7:c.1790T>A	ENSP00000414004.3:p.Leu597Gln
ENST00000643351.1:c.469T>A
ENST00000372470.7:c.1811T>A	ENSP00000361548.3:p.Leu604Gln
NM_005373.2:c.1811T>A , LRG_510t1:c.1811T>A	NP_005364.1:p.Leu604Gln
XM_011541478.1:c.1790T>A	XP_011539780.1:p.Leu597Gln
XM_017001320.1:c.1982T>A	XP_016856809.1:p.Leu661Gln
NM_005373.3:c.1811T>A MANE Select	NP_005364.1:p.Leu604Gln