Canonical Allele Identifier: CA806926

Gene: MPL

Linked Data

• dbSNP Id: rs763504517
• ExAC: 1:43814981 G / A
• gnomAD v2: 1-43814981-G-A
• gnomAD v4: 1-43349310-G-A
• COSMIC: COSM27287
• MyVariant Identifiers: chr1:g.43814981G>A (hg19) ; chr1:g.43349310G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.43349310G>A , CM000663.2:g.43349310G>A	GRCh38
NC_000001.10:g.43814981G>A , CM000663.1:g.43814981G>A	GRCh37
NC_000001.9:g.43587568G>A	NCBI36
NG_007525.1:g.16507G>A , LRG_510:g.16507G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372470.9:c.1516G>A MANE Select	ENSP00000361548.3:p.Ala506Thr
ENST00000413998.7:c.1495G>A	ENSP00000414004.3:p.Ala499Thr
ENST00000638732.1:n.1516G>A
ENST00000643351.1:c.48G>A
ENST00000372470.7:c.1516G>A	ENSP00000361548.3:p.Ala506Thr
ENST00000413998.6:c.1516G>A	ENSP00000414004.2:p.Ala506Thr
ENST00000612993.1:c.1516G>A	ENSP00000480273.1:p.Ala506Thr
NM_005373.2:c.1516G>A , LRG_510t1:c.1516G>A	NP_005364.1:p.Ala506Thr
XM_011541478.1:c.1495G>A	XP_011539780.1:p.Ala499Thr
XM_017001320.1:c.1687G>A	XP_016856809.1:p.Ala563Thr
NM_005373.3:c.1516G>A MANE Select	NP_005364.1:p.Ala506Thr