Canonical Allele Identifier: CA522806075

Gene: MPL

Linked Data

• ClinVar Variation Id: 2936896
• ClinVar RCV Id: RCV003799134
• dbSNP Id: rs1352217387
• gnomAD v2: 1-43803759-C-A
• gnomAD v4: 1-43338088-C-A
• MyVariant Identifiers: chr1:g.43803759C>A (hg19) ; chr1:g.43338088C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.43338088C>A , CM000663.2:g.43338088C>A	GRCh38
NC_000001.10:g.43803759C>A , CM000663.1:g.43803759C>A	GRCh37
NC_000001.9:g.43576346C>A	NCBI36
NG_007525.1:g.5285C>A , LRG_510:g.5285C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000372470.9:c.80-11C>A MANE Select	ENSP00000361548.3:n.80-11C>A
ENST00000413998.7:c.80-32C>A	ENSP00000414004.3:n.80-32C>A
ENST00000638732.1:n.80-11C>A
ENST00000372470.7:c.80-11C>A	ENSP00000361548.3:n.80-11C>A
ENST00000413998.6:c.80-11C>A	ENSP00000414004.2:n.80-11C>A
ENST00000612993.1:c.80-11C>A	ENSP00000480273.1:n.80-11C>A
NM_005373.2:c.80-11C>A , LRG_510t1:c.80-11C>A	NP_005364.1:n.80-11C>A
XM_011541478.1:c.80-32C>A	XP_011539780.1:n.80-32C>A
XM_017001320.1:c.240C>A	XP_016856809.1:p.Ser80Arg
NM_005373.3:c.80-11C>A MANE Select	NP_005364.1:n.80-11C>A