Canonical Allele Identifier: CA806699

Gene: MPL

Linked Data

• ClinVar Variation Id: 2046073
• ClinVar RCV Id: RCV002909119 ; RCV003403949
• dbSNP Id: rs121913610
• ExAC: 1:43805106 C / G
• gnomAD v2: 1-43805106-C-G
• gnomAD v3: 1-43339435-C-G
• gnomAD v4: 1-43339435-C-G
• MyVariant Identifiers: chr1:g.43805106C>G (hg19) ; chr1:g.43339435C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.43339435C>G , CM000663.2:g.43339435C>G	GRCh38
NC_000001.10:g.43805106C>G , CM000663.1:g.43805106C>G	GRCh37
NC_000001.9:g.43577693C>G	NCBI36
NG_007525.1:g.6632C>G , LRG_510:g.6632C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000372470.9:c.556C>G MANE Select	ENSP00000361548.3:p.Gln186Glu
ENST00000413998.7:c.535C>G	ENSP00000414004.3:p.Gln179Glu
ENST00000638732.1:n.556C>G
ENST00000372470.7:c.556C>G	ENSP00000361548.3:p.Gln186Glu
ENST00000413998.6:c.556C>G	ENSP00000414004.2:p.Gln186Glu
ENST00000612993.1:c.556C>G	ENSP00000480273.1:p.Gln186Glu
NM_005373.2:c.556C>G , LRG_510t1:c.556C>G	NP_005364.1:p.Gln186Glu
XM_011541478.1:c.535C>G	XP_011539780.1:p.Gln179Glu
XM_017001320.1:c.727C>G	XP_016856809.1:p.Gln243Glu
NM_005373.3:c.556C>G MANE Select	NP_005364.1:p.Gln186Glu