Canonical Allele Identifier: CA417547149

Gene: MPL

Linked Data

• ClinVar Variation Id: 2936269
• ClinVar RCV Id: RCV003796555
• dbSNP Id: rs1199805938
• gnomAD v2: 1-43814989-G-A
• gnomAD v3: 1-43349318-G-A
• gnomAD v4: 1-43349318-G-A
• MyVariant Identifiers: chr1:g.43814989G>A (hg19) ; chr1:g.43349318G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.43349318G>A , CM000663.2:g.43349318G>A	GRCh38
NC_000001.10:g.43814989G>A , CM000663.1:g.43814989G>A	GRCh37
NC_000001.9:g.43587576G>A	NCBI36
NG_007525.1:g.16515G>A , LRG_510:g.16515G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372470.9:c.1524G>A MANE Select	ENSP00000361548.3:p.Leu508=
ENST00000413998.7:c.1503G>A	ENSP00000414004.3:p.Leu501=
ENST00000638732.1:n.1524G>A
ENST00000643351.1:c.56G>A
ENST00000372470.7:c.1524G>A	ENSP00000361548.3:p.Leu508=
ENST00000413998.6:c.1524G>A	ENSP00000414004.2:p.Leu508=
ENST00000612993.1:c.1524G>A	ENSP00000480273.1:p.Leu508=
NM_005373.2:c.1524G>A , LRG_510t1:c.1524G>A	NP_005364.1:p.Leu508=
XM_011541478.1:c.1503G>A	XP_011539780.1:p.Leu501=
XM_017001320.1:c.1695G>A	XP_016856809.1:p.Leu565=
NM_005373.3:c.1524G>A MANE Select	NP_005364.1:p.Leu508=