Canonical Allele Identifier: CA21607209
Gene: MPL HGNC NCBI

Linked Data

ClinVar Variation Id: 3031305
ClinVar RCV Id: RCV004534446
dbSNP Id: rs769803049
gnomAD v2: 1-43804252-G-A
gnomAD v3: 1-43338581-G-A
gnomAD v4: 1-43338581-G-A
MyVariant Identifiers: chr1:g.43804252G>A (hg19) chr1:g.43338581G>A (hg38)
JSON-LD

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000372470.9:c.252G>A MANE Select ENSP00000361548.3:p.Met84Ile
ENST00000413998.7:c.231G>A ENSP00000414004.3:p.Met77Ile
ENST00000638732.1:n.252G>A
ENST00000372470.7:c.252G>A ENSP00000361548.3:p.Met84Ile
ENST00000413998.6:c.252G>A ENSP00000414004.2:p.Met84Ile
ENST00000612993.1:c.252G>A ENSP00000480273.1:p.Met84Ile
NM_005373.2:c.252G>A , LRG_510t1:c.252G>A NP_005364.1:p.Met84Ile
XM_011541478.1:c.231G>A XP_011539780.1:p.Met77Ile
XM_017001320.1:c.423G>A XP_016856809.1:p.Met141Ile
NM_005373.3:c.252G>A MANE Select NP_005364.1:p.Met84Ile
Search 100 bp 5'
Search 100 bp 3'