Canonical Allele Identifier: CA10609987

Gene: MPL

Linked Data

• ClinVar Variation Id: 297398
• ClinVar RCV Id: RCV000301346 ; RCV000356128 ; RCV002059483
• dbSNP Id: rs886046349
• gnomAD v4: 1-43338215-C-T
• MyVariant Identifiers: chr1:g.43803886C>T (hg19) ; chr1:g.43338215C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.43338215C>T , CM000663.2:g.43338215C>T	GRCh38
NC_000001.10:g.43803886C>T , CM000663.1:g.43803886C>T	GRCh37
NC_000001.9:g.43576473C>T	NCBI36
NG_007525.1:g.5412C>T , LRG_510:g.5412C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372470.9:c.196C>T MANE Select	ENSP00000361548.3:p.Leu66=
ENST00000413998.7:c.175C>T	ENSP00000414004.3:p.Leu59=
ENST00000638732.1:n.196C>T
ENST00000372470.7:c.196C>T	ENSP00000361548.3:p.Leu66=
ENST00000413998.6:c.196C>T	ENSP00000414004.2:p.Leu66=
ENST00000612993.1:c.196C>T	ENSP00000480273.1:p.Leu66=
NM_005373.2:c.196C>T , LRG_510t1:c.196C>T	NP_005364.1:p.Leu66=
XM_011541478.1:c.175C>T	XP_011539780.1:p.Leu59=
XM_017001320.1:c.367C>T	XP_016856809.1:p.Leu123=
NM_005373.3:c.196C>T MANE Select	NP_005364.1:p.Leu66=