Canonical Allele Identifier: CA163018

Gene: MPL

Linked Data

• ClinVar Variation Id: 135564
• ClinVar RCV Id: RCV000282111 ; RCV000232182 ; RCV000122424 ; RCV000337044 ; RCV001689671 ; RCV004528839
• dbSNP Id: rs41269541
• ExAC: 1:43815035 C / T
• gnomAD v2: 1-43815035-C-T
• gnomAD v3: 1-43349364-C-T
• gnomAD v4: 1-43349364-C-T
• COSMIC: COSM26354
• MyVariant Identifiers: chr1:g.43815035C>T (hg19) ; chr1:g.43349364C>T (hg38)
• PubMed: PMID:24728327

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.43349364C>T , CM000663.2:g.43349364C>T	GRCh38
NC_000001.10:g.43815035C>T , CM000663.1:g.43815035C>T	GRCh37
NC_000001.9:g.43587622C>T	NCBI36
NG_007525.1:g.16561C>T , LRG_510:g.16561C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372470.9:c.1565+5C>T MANE Select	ENSP00000361548.3:n.1565+5C>T
ENST00000413998.7:c.1544+5C>T	ENSP00000414004.3:n.1544+5C>T
ENST00000638732.1:n.1570C>T
ENST00000643351.1:c.97+5C>T
ENST00000372470.7:c.1565+5C>T	ENSP00000361548.3:n.1565+5C>T
ENST00000413998.6:c.1570C>T	ENSP00000414004.2:p.Arg524Cys
ENST00000612993.1:c.1570C>T	ENSP00000480273.1:p.Arg524Cys
NM_005373.2:c.1565+5C>T , LRG_510t1:c.1565+5C>T	NP_005364.1:n.1565+5C>T
XM_011541478.1:c.1544+5C>T	XP_011539780.1:n.1544+5C>T
XM_017001320.1:c.1736+5C>T	XP_016856809.1:n.1736+5C>T
NM_005373.3:c.1565+5C>T MANE Select	NP_005364.1:n.1565+5C>T