Canonical Allele Identifier: CA339973511

Gene: MPL

Linked Data

• dbSNP Id: rs1182106504
• gnomAD v2: 1-43804289-G-C
• gnomAD v4: 1-43338618-G-C
• MyVariant Identifiers: chr1:g.43804289G>C (hg19) ; chr1:g.43338618G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.43338618G>C , CM000663.2:g.43338618G>C	GRCh38
NC_000001.10:g.43804289G>C , CM000663.1:g.43804289G>C	GRCh37
NC_000001.9:g.43576876G>C	NCBI36
NG_007525.1:g.5815G>C , LRG_510:g.5815G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372470.9:c.289G>C MANE Select	ENSP00000361548.3:p.Asp97His
ENST00000413998.7:c.268G>C	ENSP00000414004.3:p.Asp90His
ENST00000638732.1:n.289G>C
ENST00000372470.7:c.289G>C	ENSP00000361548.3:p.Asp97His
ENST00000413998.6:c.289G>C	ENSP00000414004.2:p.Asp97His
ENST00000612993.1:c.289G>C	ENSP00000480273.1:p.Asp97His
NM_005373.2:c.289G>C , LRG_510t1:c.289G>C	NP_005364.1:p.Asp97His
XM_011541478.1:c.268G>C	XP_011539780.1:p.Asp90His
XM_017001320.1:c.460G>C	XP_016856809.1:p.Asp154His
NM_005373.3:c.289G>C MANE Select	NP_005364.1:p.Asp97His