Canonical Allele Identifier: CA339973632

Gene: MPL

Linked Data

• gnomAD v4: 1-43338645-C-G
• MyVariant Identifiers: chr1:g.43804316C>G (hg19) ; chr1:g.43338645C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.43338645C>G , CM000663.2:g.43338645C>G	GRCh38
NC_000001.10:g.43804316C>G , CM000663.1:g.43804316C>G	GRCh37
NC_000001.9:g.43576903C>G	NCBI36
NG_007525.1:g.5842C>G , LRG_510:g.5842C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372470.9:c.316C>G MANE Select	ENSP00000361548.3:p.Pro106Ala
ENST00000413998.7:c.295C>G	ENSP00000414004.3:p.Pro99Ala
ENST00000638732.1:n.316C>G
ENST00000372470.7:c.316C>G	ENSP00000361548.3:p.Pro106Ala
ENST00000413998.6:c.316C>G	ENSP00000414004.2:p.Pro106Ala
ENST00000612993.1:c.316C>G	ENSP00000480273.1:p.Pro106Ala
NM_005373.2:c.316C>G , LRG_510t1:c.316C>G	NP_005364.1:p.Pro106Ala
XM_011541478.1:c.295C>G	XP_011539780.1:p.Pro99Ala
XM_017001320.1:c.487C>G	XP_016856809.1:p.Pro163Ala
NM_005373.3:c.316C>G MANE Select	NP_005364.1:p.Pro106Ala