Canonical Allele Identifier: CA522806065

Gene: MPL

Linked Data

• dbSNP Id: rs776286146
• gnomAD v2: 1-43803644-A-C
• gnomAD v3: 1-43337973-A-C
• gnomAD v4: 1-43337973-A-C
• MyVariant Identifiers: chr1:g.43803644A>C (hg19) ; chr1:g.43337973A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.43337973A>C , CM000663.2:g.43337973A>C	GRCh38
NC_000001.10:g.43803644A>C , CM000663.1:g.43803644A>C	GRCh37
NC_000001.9:g.43576231A>C	NCBI36
NG_007525.1:g.5170A>C , LRG_510:g.5170A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372470.9:c.79+46A>C MANE Select	ENSP00000361548.3:n.79+46A>C
ENST00000413998.7:c.79+46A>C	ENSP00000414004.3:n.79+46A>C
ENST00000638732.1:n.79+46A>C
ENST00000372470.7:c.79+46A>C	ENSP00000361548.3:n.79+46A>C
ENST00000413998.6:c.79+46A>C	ENSP00000414004.2:n.79+46A>C
ENST00000612993.1:c.79+46A>C	ENSP00000480273.1:n.79+46A>C
NM_005373.2:c.79+46A>C , LRG_510t1:c.79+46A>C	NP_005364.1:n.79+46A>C
XM_011541478.1:c.79+46A>C	XP_011539780.1:n.79+46A>C
XM_017001320.1:c.125A>C	XP_016856809.1:p.Glu42Ala
NM_005373.3:c.79+46A>C MANE Select	NP_005364.1:n.79+46A>C