Canonical Allele Identifier: CA806623

Gene: MPL

Linked Data

• dbSNP Id: rs769803049
• ExAC: 1:43804252 G / T
• gnomAD v2: 1-43804252-G-T
• MyVariant Identifiers: chr1:g.43804252G>T (hg19) ; chr1:g.43338581G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.43338581G>T , CM000663.2:g.43338581G>T	GRCh38
NC_000001.10:g.43804252G>T , CM000663.1:g.43804252G>T	GRCh37
NC_000001.9:g.43576839G>T	NCBI36
NG_007525.1:g.5778G>T , LRG_510:g.5778G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372470.9:c.252G>T MANE Select	ENSP00000361548.3:p.Met84Ile
ENST00000413998.7:c.231G>T	ENSP00000414004.3:p.Met77Ile
ENST00000638732.1:n.252G>T
ENST00000372470.7:c.252G>T	ENSP00000361548.3:p.Met84Ile
ENST00000413998.6:c.252G>T	ENSP00000414004.2:p.Met84Ile
ENST00000612993.1:c.252G>T	ENSP00000480273.1:p.Met84Ile
NM_005373.2:c.252G>T , LRG_510t1:c.252G>T	NP_005364.1:p.Met84Ile
XM_011541478.1:c.231G>T	XP_011539780.1:p.Met77Ile
XM_017001320.1:c.423G>T	XP_016856809.1:p.Met141Ile
NM_005373.3:c.252G>T MANE Select	NP_005364.1:p.Met84Ile