Canonical Allele Identifier: CA522806061

Gene: MPL

Linked Data

• dbSNP Id: rs1307890747
• gnomAD v2: 1-43803616-T-G
• gnomAD v3: 1-43337945-T-G
• gnomAD v4: 1-43337945-T-G
• MyVariant Identifiers: chr1:g.43803616T>G (hg19) ; chr1:g.43337945T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.43337945T>G , CM000663.2:g.43337945T>G	GRCh38
NC_000001.10:g.43803616T>G , CM000663.1:g.43803616T>G	GRCh37
NC_000001.9:g.43576203T>G	NCBI36
NG_007525.1:g.5142T>G , LRG_510:g.5142T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372470.9:c.79+18T>G MANE Select	ENSP00000361548.3:n.79+18T>G
ENST00000413998.7:c.79+18T>G	ENSP00000414004.3:n.79+18T>G
ENST00000638732.1:n.79+18T>G
ENST00000372470.7:c.79+18T>G	ENSP00000361548.3:n.79+18T>G
ENST00000413998.6:c.79+18T>G	ENSP00000414004.2:n.79+18T>G
ENST00000612993.1:c.79+18T>G	ENSP00000480273.1:n.79+18T>G
NM_005373.2:c.79+18T>G , LRG_510t1:c.79+18T>G	NP_005364.1:n.79+18T>G
XM_011541478.1:c.79+18T>G	XP_011539780.1:n.79+18T>G
XM_017001320.1:c.97T>G	XP_016856809.1:p.Trp33Gly
NM_005373.3:c.79+18T>G MANE Select	NP_005364.1:n.79+18T>G