Canonical Allele Identifier: CA16042320

Gene: MPL

Linked Data

• ClinVar Variation Id: 372410
• ClinVar RCV Id: RCV000412964 ; RCV002524635
• dbSNP Id: rs1057517761
• gnomAD v4: 1-43349004-T-C
• MyVariant Identifiers: chr1:g.43814675T>C (hg19) ; chr1:g.43349004T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.43349004T>C , CM000663.2:g.43349004T>C	GRCh38
NC_000001.10:g.43814675T>C , CM000663.1:g.43814675T>C	GRCh37
NC_000001.9:g.43587262T>C	NCBI36
NG_007525.1:g.16201T>C , LRG_510:g.16201T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372470.9:c.1468+2T>C MANE Select	ENSP00000361548.3:n.1468+2T>C
ENST00000413998.7:c.1447+2T>C	ENSP00000414004.3:n.1447+2T>C
ENST00000638732.1:n.1468+2T>C
ENST00000372470.7:c.1468+2T>C	ENSP00000361548.3:n.1468+2T>C
ENST00000413998.6:c.1468+2T>C	ENSP00000414004.2:n.1468+2T>C
ENST00000612993.1:c.1468+2T>C	ENSP00000480273.1:n.1468+2T>C
NM_005373.2:c.1468+2T>C , LRG_510t1:c.1468+2T>C	NP_005364.1:n.1468+2T>C
XM_011541478.1:c.1447+2T>C	XP_011539780.1:n.1447+2T>C
XM_017001320.1:c.1639+2T>C	XP_016856809.1:n.1639+2T>C
NM_005373.3:c.1468+2T>C MANE Select	NP_005364.1:n.1468+2T>C