Canonical Allele Identifier: CA339987452

Gene: MPL

Linked Data

• gnomAD v4: 1-43349272-C-G
• MyVariant Identifiers: chr1:g.43814943C>G (hg19) ; chr1:g.43349272C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.43349272C>G , CM000663.2:g.43349272C>G	GRCh38
NC_000001.10:g.43814943C>G , CM000663.1:g.43814943C>G	GRCh37
NC_000001.9:g.43587530C>G	NCBI36
NG_007525.1:g.16469C>G , LRG_510:g.16469C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000372470.9:c.1478C>G MANE Select	ENSP00000361548.3:p.Ser493Cys
ENST00000413998.7:c.1457C>G	ENSP00000414004.3:p.Ser486Cys
ENST00000638732.1:n.1478C>G
ENST00000643351.1:c.10C>G
ENST00000372470.7:c.1478C>G	ENSP00000361548.3:p.Ser493Cys
ENST00000413998.6:c.1478C>G	ENSP00000414004.2:p.Ser493Cys
ENST00000612993.1:c.1478C>G	ENSP00000480273.1:p.Ser493Cys
NM_005373.2:c.1478C>G , LRG_510t1:c.1478C>G	NP_005364.1:p.Ser493Cys
XM_011541478.1:c.1457C>G	XP_011539780.1:p.Ser486Cys
XM_017001320.1:c.1649C>G	XP_016856809.1:p.Ser550Cys
NM_005373.3:c.1478C>G MANE Select	NP_005364.1:p.Ser493Cys