Canonical Allele Identifier: CA806767
Gene: MPL HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.43340384T>C
GRCh37 chr1:g.43806055T>C
gnomAD v2:
1:43806055 T / C
gnomAD v3:
1:43340384 T / C
gnomAD v4:
chr1-43340384-T-C
Joint Max Group AF 0.00090677 (EAS)
Genomes Max Group AF 0.00026323 (EAS)
Exomes Max Group AF 0.00093692 (EAS)
ClinVar RCV:
RCV000288318
RCV000343418
ClinVar Variation:
297401
dbSNP:
201514537
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.43340384T>C , CM000663.2:g.43340384T>C GRCh38
NC_000001.10:g.43806055T>C , CM000663.1:g.43806055T>C GRCh37
NC_000001.9:g.43578642T>C NCBI36
NG_007525.1:g.7581T>C , LRG_510:g.7581T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000372470.9:c.854-3T>C MANE Select ENSP00000361548.3:n.854-3T>C
ENST00000413998.7:c.833-3T>C ENSP00000414004.3:n.833-3T>C
ENST00000638732.1:n.854-3T>C
ENST00000372470.7:c.854-3T>C ENSP00000361548.3:n.854-3T>C
ENST00000413998.6:c.854-3T>C ENSP00000414004.2:n.854-3T>C
ENST00000612993.1:c.854-3T>C ENSP00000480273.1:n.854-3T>C
NM_005373.2:c.854-3T>C , LRG_510t1:c.854-3T>C NP_005364.1:n.854-3T>C
XM_011541478.1:c.833-3T>C XP_011539780.1:n.833-3T>C
XM_017001320.1:c.1025-3T>C XP_016856809.1:n.1025-3T>C
NM_005373.3:c.854-3T>C MANE Select NP_005364.1:n.854-3T>C
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