Canonical Allele Identifier: CA123771

Gene: MPL

Linked Data

• ClinVar Variation Id: 14154
• ClinVar RCV Id: RCV000015217
• dbSNP Id: rs121913610
• gnomAD v4: 1-43339435-C-T
• MyVariant Identifiers: chr1:g.43805106C>T (hg19) ; chr1:g.43339435C>T (hg38)
• PubMed: PMID:10077649

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000372470.9:c.556C>T MANE Select	ENSP00000361548.3:p.Gln186Ter
ENST00000413998.7:c.535C>T	ENSP00000414004.3:p.Gln179Ter
ENST00000638732.1:n.556C>T
ENST00000372470.7:c.556C>T	ENSP00000361548.3:p.Gln186Ter
ENST00000413998.6:c.556C>T	ENSP00000414004.2:p.Gln186Ter
ENST00000612993.1:c.556C>T	ENSP00000480273.1:p.Gln186Ter
NM_005373.2:c.556C>T , LRG_510t1:c.556C>T	NP_005364.1:p.Gln186Ter
XM_011541478.1:c.535C>T	XP_011539780.1:p.Gln179Ter
XM_017001320.1:c.727C>T	XP_016856809.1:p.Gln243Ter
NM_005373.3:c.556C>T MANE Select	NP_005364.1:p.Gln186Ter