Canonical Allele Identifier: CA522806074

Gene: MPL

Linked Data

• ClinVar Variation Id: 2922953
• ClinVar RCV Id: RCV003788119
• dbSNP Id: rs1308974655
• gnomAD v2: 1-43803755-C-T
• gnomAD v4: 1-43338084-C-T
• MyVariant Identifiers: chr1:g.43803755C>T (hg19) ; chr1:g.43338084C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.43338084C>T , CM000663.2:g.43338084C>T	GRCh38
NC_000001.10:g.43803755C>T , CM000663.1:g.43803755C>T	GRCh37
NC_000001.9:g.43576342C>T	NCBI36
NG_007525.1:g.5281C>T , LRG_510:g.5281C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000372470.9:c.80-15C>T MANE Select	ENSP00000361548.3:n.80-15C>T
ENST00000413998.7:c.80-36C>T	ENSP00000414004.3:n.80-36C>T
ENST00000638732.1:n.80-15C>T
ENST00000372470.7:c.80-15C>T	ENSP00000361548.3:n.80-15C>T
ENST00000413998.6:c.80-15C>T	ENSP00000414004.2:n.80-15C>T
ENST00000612993.1:c.80-15C>T	ENSP00000480273.1:n.80-15C>T
NM_005373.2:c.80-15C>T , LRG_510t1:c.80-15C>T	NP_005364.1:n.80-15C>T
XM_011541478.1:c.80-36C>T	XP_011539780.1:n.80-36C>T
XM_017001320.1:c.236C>T	XP_016856809.1:p.Thr79Ile
NM_005373.3:c.80-15C>T MANE Select	NP_005364.1:n.80-15C>T