Canonical Allele Identifier: CA339973400

Gene: MPL

Linked Data

• dbSNP Id: rs777298237
• gnomAD v3: 1-43338579-A-T
• gnomAD v4: 1-43338579-A-T
• MyVariant Identifiers: chr1:g.43804250A>T (hg19) ; chr1:g.43338579A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.43338579A>T , CM000663.2:g.43338579A>T	GRCh38
NC_000001.10:g.43804250A>T , CM000663.1:g.43804250A>T	GRCh37
NC_000001.9:g.43576837A>T	NCBI36
NG_007525.1:g.5776A>T , LRG_510:g.5776A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372470.9:c.250A>T MANE Select	ENSP00000361548.3:p.Met84Leu
ENST00000413998.7:c.229A>T	ENSP00000414004.3:p.Met77Leu
ENST00000638732.1:n.250A>T
ENST00000372470.7:c.250A>T	ENSP00000361548.3:p.Met84Leu
ENST00000413998.6:c.250A>T	ENSP00000414004.2:p.Met84Leu
ENST00000612993.1:c.250A>T	ENSP00000480273.1:p.Met84Leu
NM_005373.2:c.250A>T , LRG_510t1:c.250A>T	NP_005364.1:p.Met84Leu
XM_011541478.1:c.229A>T	XP_011539780.1:p.Met77Leu
XM_017001320.1:c.421A>T	XP_016856809.1:p.Met141Leu
NM_005373.3:c.250A>T MANE Select	NP_005364.1:p.Met84Leu