Canonical Allele Identifier: CA160813

Gene: MPL

Linked Data

• ClinVar Variation Id: 134821
• ClinVar RCV Id: RCV000121534 ; RCV000666995 ; RCV002517599
• dbSNP Id: rs61754776
• ExAC: 1:43803899 C / T
• gnomAD v2: 1-43803899-C-T
• gnomAD v3: 1-43338228-C-T
• gnomAD v4: 1-43338228-C-T
• COSMIC: COSM1321064
• MyVariant Identifiers: chr1:g.43803899C>T (hg19) ; chr1:g.43338228C>T (hg38)
• PubMed: PMID:24728327

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.43338228C>T , CM000663.2:g.43338228C>T	GRCh38
NC_000001.10:g.43803899C>T , CM000663.1:g.43803899C>T	GRCh37
NC_000001.9:g.43576486C>T	NCBI36
NG_007525.1:g.5425C>T , LRG_510:g.5425C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372470.9:c.209C>T MANE Select	ENSP00000361548.3:p.Pro70Leu
ENST00000413998.7:c.188C>T	ENSP00000414004.3:p.Pro63Leu
ENST00000638732.1:n.209C>T
ENST00000372470.7:c.209C>T	ENSP00000361548.3:p.Pro70Leu
ENST00000413998.6:c.209C>T	ENSP00000414004.2:p.Pro70Leu
ENST00000612993.1:c.209C>T	ENSP00000480273.1:p.Pro70Leu
NM_005373.2:c.209C>T , LRG_510t1:c.209C>T	NP_005364.1:p.Pro70Leu
XM_011541478.1:c.188C>T	XP_011539780.1:p.Pro63Leu
XM_017001320.1:c.380C>T	XP_016856809.1:p.Pro127Leu
NM_005373.3:c.209C>T MANE Select	NP_005364.1:p.Pro70Leu