Canonical Allele Identifier: CA806970

Gene: MPL

Linked Data

• ClinVar Variation Id: 297409
• ClinVar RCV Id: RCV000352022 ; RCV000397980 ; RCV001245598 ; RCV003114469 ; RCV003409454
• dbSNP Id: rs148784027
• ExAC: 1:43817930 C / T
• gnomAD v2: 1-43817930-C-T
• gnomAD v3: 1-43352259-C-T
• gnomAD v4: 1-43352259-C-T
• MyVariant Identifiers: chr1:g.43817930C>T (hg19) ; chr1:g.43352259C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.43352259C>T , CM000663.2:g.43352259C>T	GRCh38
NC_000001.10:g.43817930C>T , CM000663.1:g.43817930C>T	GRCh37
NC_000001.9:g.43590517C>T	NCBI36
NG_007525.1:g.19456C>T , LRG_510:g.19456C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372470.9:c.1609C>T MANE Select	ENSP00000361548.3:p.Arg537Trp
ENST00000413998.7:c.1588C>T	ENSP00000414004.3:p.Arg530Trp
ENST00000643351.1:c.267C>T
ENST00000372470.7:c.1609C>T	ENSP00000361548.3:p.Arg537Trp
NM_005373.2:c.1609C>T , LRG_510t1:c.1609C>T	NP_005364.1:p.Arg537Trp
XM_011541478.1:c.1588C>T	XP_011539780.1:p.Arg530Trp
XM_017001320.1:c.1780C>T	XP_016856809.1:p.Arg594Trp
NM_005373.3:c.1609C>T MANE Select	NP_005364.1:p.Arg537Trp