Canonical Allele Identifier: CA806609

Gene: MPL

Linked Data

• dbSNP Id: rs577103201
• ExAC: 1:43804177 G / T
• gnomAD v2: 1-43804177-G-T
• gnomAD v3: 1-43338506-G-T
• gnomAD v4: 1-43338506-G-T
• MyVariant Identifiers: chr1:g.43804177G>T (hg19) ; chr1:g.43338506G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.43338506G>T , CM000663.2:g.43338506G>T	GRCh38
NC_000001.10:g.43804177G>T , CM000663.1:g.43804177G>T	GRCh37
NC_000001.9:g.43576764G>T	NCBI36
NG_007525.1:g.5703G>T , LRG_510:g.5703G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372470.9:c.213-36G>T MANE Select	ENSP00000361548.3:n.213-36G>T
ENST00000413998.7:c.192-36G>T	ENSP00000414004.3:n.192-36G>T
ENST00000638732.1:n.213-36G>T
ENST00000372470.7:c.213-36G>T	ENSP00000361548.3:n.213-36G>T
ENST00000413998.6:c.213-36G>T	ENSP00000414004.2:n.213-36G>T
ENST00000612993.1:c.213-36G>T	ENSP00000480273.1:n.213-36G>T
NM_005373.2:c.213-36G>T , LRG_510t1:c.213-36G>T	NP_005364.1:n.213-36G>T
XM_011541478.1:c.192-36G>T	XP_011539780.1:n.192-36G>T
XM_017001320.1:c.384-36G>T	XP_016856809.1:n.384-36G>T
NM_005373.3:c.213-36G>T MANE Select	NP_005364.1:n.213-36G>T