Canonical Allele Identifier: CA160859
Gene: MPL HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.43346566G>T
GRCh37 chr1:g.43812237G>T
Revel Score:
ENST00000372468 0.353
ENST00000372470 (MANE Select) 0.353
ENST00000413998 0.353
gnomAD v2:
1:43812237 G / T
gnomAD v3:
1:43346566 G / T
gnomAD v4:
chr1-43346566-G-T
Joint Max Group AF 0.00218679 (MID)
Genomes Max Group AF 0.00055976 (NFE)
Exomes Max Group AF 0.00229827 (MID)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.43346566G>T , CM000663.2:g.43346566G>T GRCh38
NC_000001.10:g.43812237G>T , CM000663.1:g.43812237G>T GRCh37
NC_000001.9:g.43584824G>T NCBI36
NG_007525.1:g.13763G>T , LRG_510:g.13763G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000372470.9:c.1102G>T MANE Select ENSP00000361548.3:p.Val368Leu
ENST00000413998.7:c.1081G>T ENSP00000414004.3:p.Val361Leu
ENST00000638732.1:n.1102G>T
ENST00000372470.7:c.1102G>T ENSP00000361548.3:p.Val368Leu
ENST00000413998.6:c.1102G>T ENSP00000414004.2:p.Val368Leu
ENST00000612993.1:c.1102G>T ENSP00000480273.1:p.Val368Leu
NM_005373.2:c.1102G>T , LRG_510t1:c.1102G>T NP_005364.1:p.Val368Leu
XM_011541478.1:c.1081G>T XP_011539780.1:p.Val361Leu
XM_017001320.1:c.1273G>T XP_016856809.1:p.Val425Leu
NM_005373.3:c.1102G>T MANE Select NP_005364.1:p.Val368Leu
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