Canonical Allele Identifier: CA522806063

Gene: MPL

Linked Data

• dbSNP Id: rs779983027
• gnomAD v2: 1-43803630-G-A
• MyVariant Identifiers: chr1:g.43803630G>A (hg19) ; chr1:g.43337959G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.43337959G>A , CM000663.2:g.43337959G>A	GRCh38
NC_000001.10:g.43803630G>A , CM000663.1:g.43803630G>A	GRCh37
NC_000001.9:g.43576217G>A	NCBI36
NG_007525.1:g.5156G>A , LRG_510:g.5156G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372470.9:c.79+32G>A MANE Select	ENSP00000361548.3:n.79+32G>A
ENST00000413998.7:c.79+32G>A	ENSP00000414004.3:n.79+32G>A
ENST00000638732.1:n.79+32G>A
ENST00000372470.7:c.79+32G>A	ENSP00000361548.3:n.79+32G>A
ENST00000413998.6:c.79+32G>A	ENSP00000414004.2:n.79+32G>A
ENST00000612993.1:c.79+32G>A	ENSP00000480273.1:n.79+32G>A
NM_005373.2:c.79+32G>A , LRG_510t1:c.79+32G>A	NP_005364.1:n.79+32G>A
XM_011541478.1:c.79+32G>A	XP_011539780.1:n.79+32G>A
XM_017001320.1:c.111G>A	XP_016856809.1:p.Met37Ile
NM_005373.3:c.79+32G>A MANE Select	NP_005364.1:n.79+32G>A