Canonical Allele Identifier: CA806635

Gene: MPL

Linked Data

• dbSNP Id: rs750046020
• ExAC: 1:43804317 C / G
• gnomAD v2: 1-43804317-C-G
• gnomAD v4: 1-43338646-C-G
• MyVariant Identifiers: chr1:g.43804317C>G (hg19) ; chr1:g.43338646C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.43338646C>G , CM000663.2:g.43338646C>G	GRCh38
NC_000001.10:g.43804317C>G , CM000663.1:g.43804317C>G	GRCh37
NC_000001.9:g.43576904C>G	NCBI36
NG_007525.1:g.5843C>G , LRG_510:g.5843C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372470.9:c.317C>G MANE Select	ENSP00000361548.3:p.Pro106Arg
ENST00000413998.7:c.296C>G	ENSP00000414004.3:p.Pro99Arg
ENST00000638732.1:n.317C>G
ENST00000372470.7:c.317C>G	ENSP00000361548.3:p.Pro106Arg
ENST00000413998.6:c.317C>G	ENSP00000414004.2:p.Pro106Arg
ENST00000612993.1:c.317C>G	ENSP00000480273.1:p.Pro106Arg
NM_005373.2:c.317C>G , LRG_510t1:c.317C>G	NP_005364.1:p.Pro106Arg
XM_011541478.1:c.296C>G	XP_011539780.1:p.Pro99Arg
XM_017001320.1:c.488C>G	XP_016856809.1:p.Pro163Arg
NM_005373.3:c.317C>G MANE Select	NP_005364.1:p.Pro106Arg