Canonical Allele Identifier: CA806700

Gene: MPL

Linked Data

• ClinVar Variation Id: 2923356
• ClinVar RCV Id: RCV003780474
• dbSNP Id: rs121913610
• ExAC: 1:43805106 C / A
• gnomAD v2: 1-43805106-C-A
• gnomAD v3: 1-43339435-C-A
• gnomAD v4: 1-43339435-C-A
• MyVariant Identifiers: chr1:g.43805106C>A (hg19) ; chr1:g.43339435C>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000372470.9:c.556C>A MANE Select	ENSP00000361548.3:p.Gln186Lys
ENST00000413998.7:c.535C>A	ENSP00000414004.3:p.Gln179Lys
ENST00000638732.1:n.556C>A
ENST00000372470.7:c.556C>A	ENSP00000361548.3:p.Gln186Lys
ENST00000413998.6:c.556C>A	ENSP00000414004.2:p.Gln186Lys
ENST00000612993.1:c.556C>A	ENSP00000480273.1:p.Gln186Lys
NM_005373.2:c.556C>A , LRG_510t1:c.556C>A	NP_005364.1:p.Gln186Lys
XM_011541478.1:c.535C>A	XP_011539780.1:p.Gln179Lys
XM_017001320.1:c.727C>A	XP_016856809.1:p.Gln243Lys
NM_005373.3:c.556C>A MANE Select	NP_005364.1:p.Gln186Lys