Canonical Allele Identifier: CA123792

Gene: MPL

Linked Data

• ClinVar Variation Id: 14164
• ClinVar RCV Id: RCV000015227 ; RCV000022668 ; RCV000422740 ; RCV000501989 ; RCV001361128
• dbSNP Id: rs121913615
• ExAC: 1:43815009 G / T
• gnomAD v2: 1-43815009-G-T
• gnomAD v3: 1-43349338-G-T
• gnomAD v4: 1-43349338-G-T
• COSMIC: COSM18918 ; COSM3719407
• MyVariant Identifiers: chr1:g.43815009G>T (hg19) ; chr1:g.43349338G>T (hg38)
• PubMed: PMID:16834459 ; PMID:16868251

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.43349338G>T , CM000663.2:g.43349338G>T	GRCh38
NC_000001.10:g.43815009G>T , CM000663.1:g.43815009G>T	GRCh37
NC_000001.9:g.43587596G>T	NCBI36
NG_007525.1:g.16535G>T , LRG_510:g.16535G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000372470.9:c.1544G>T MANE Select	ENSP00000361548.3:p.Trp515Leu
ENST00000413998.7:c.1523G>T	ENSP00000414004.3:p.Trp508Leu
ENST00000638732.1:n.1544G>T
ENST00000643351.1:c.76G>T
ENST00000372470.7:c.1544G>T	ENSP00000361548.3:p.Trp515Leu
ENST00000413998.6:c.1544G>T	ENSP00000414004.2:p.Trp515Leu
ENST00000612993.1:c.1544G>T	ENSP00000480273.1:p.Trp515Leu
NM_005373.2:c.1544G>T , LRG_510t1:c.1544G>T	NP_005364.1:p.Trp515Leu
XM_011541478.1:c.1523G>T	XP_011539780.1:p.Trp508Leu
XM_017001320.1:c.1715G>T	XP_016856809.1:p.Trp572Leu
NM_005373.3:c.1544G>T MANE Select	NP_005364.1:p.Trp515Leu