Canonical Allele Identifier: CA522806114

Gene: MPL

Linked Data

• ClinVar Variation Id: 1075094
• ClinVar RCV Id: RCV001388589
• dbSNP Id: rs1361003749
• gnomAD v2: 1-43804307-CT-C
• gnomAD v4: 1-43338636-CT-C
• MyVariant Identifiers: chr1:g.43804308del (hg19) ; chr1:g.43338637del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.43338637del , CM000663.2:g.43338637del	GRCh38
NC_000001.10:g.43804308del , CM000663.1:g.43804308del	GRCh37
NC_000001.9:g.43576895del	NCBI36
NG_007525.1:g.5834del , LRG_510:g.5834del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372470.9:c.308del MANE Select	ENSP00000361548.3:p.Leu103ProfsTer9
ENST00000413998.7:c.287del	ENSP00000414004.3:p.Leu96ProfsTer9
ENST00000638732.1:n.308del
ENST00000372470.7:c.308del	ENSP00000361548.3:p.Leu103ProfsTer9
ENST00000413998.6:c.308del	ENSP00000414004.2:p.Leu103ProfsTer9
ENST00000612993.1:c.308del	ENSP00000480273.1:p.Leu103ProfsTer9
NM_005373.2:c.308del , LRG_510t1:c.308del	NP_005364.1:p.Leu103ProfsTer9
XM_011541478.1:c.287del	XP_011539780.1:p.Leu96ProfsTer9
XM_017001320.1:c.479del	XP_016856809.1:p.Leu160ProfsTer9
NM_005373.3:c.308del MANE Select	NP_005364.1:p.Leu103ProfsTer9