Canonical Allele Identifier: CA735990088

Gene: MPL

Linked Data

• dbSNP Id: rs1161343603
• gnomAD v4: 1-43338360-A-G
• MyVariant Identifiers: chr1:g.43804031A>G (hg19) ; chr1:g.43338360A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.43338360A>G , CM000663.2:g.43338360A>G	GRCh38
NC_000001.10:g.43804031A>G , CM000663.1:g.43804031A>G	GRCh37
NC_000001.9:g.43576618A>G	NCBI36
NG_007525.1:g.5557A>G , LRG_510:g.5557A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372470.9:c.212+129A>G MANE Select	ENSP00000361548.3:n.212+129A>G
ENST00000413998.7:c.191+129A>G	ENSP00000414004.3:n.191+129A>G
ENST00000638732.1:n.212+129A>G
ENST00000372470.7:c.212+129A>G	ENSP00000361548.3:n.212+129A>G
ENST00000413998.6:c.212+129A>G	ENSP00000414004.2:n.212+129A>G
ENST00000612993.1:c.212+129A>G	ENSP00000480273.1:n.212+129A>G
NM_005373.2:c.212+129A>G , LRG_510t1:c.212+129A>G	NP_005364.1:n.212+129A>G
XM_011541478.1:c.191+129A>G	XP_011539780.1:n.191+129A>G
XM_017001320.1:c.383+129A>G	XP_016856809.1:n.383+129A>G
NM_005373.3:c.212+129A>G MANE Select	NP_005364.1:n.212+129A>G