Canonical Allele Identifier: CA7902786
Gene: PRM1 HGNC NCBI
RMI2 HGNC NCBI
COSMIC:
COSM1375814 (not active)
MyVariant.info:
GRCh38 chr16:g.11281009G>T
GRCh37 chr16:g.11374866G>T
gnomAD v2:
16:11374866 G / T
gnomAD v3:
16:11281009 G / T
gnomAD v4:
chr16-11281009-G-T
Joint Max Group AF 0.72728656 (NFE)
Genomes Max Group AF 0.70631968 (NFE)
Exomes Max Group AF 0.72828247 (NFE)
ClinVar RCV:
RCV001686463
ClinVar Variation:
1272307
dbSNP:
737008
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.11281009G>T , CM000678.2:g.11281009G>T GRCh38
NC_000016.9:g.11374866G>T , CM000678.1:g.11374866G>T GRCh37
NC_000016.8:g.11282367G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000312511.4:c.139C>A (PRM1) MANE Select ENSP00000310515.3:p.Arg47=
ENST00000649869.1:n.152+31231G>T (RMI2)
ENST00000312511.3:c.139C>A (PRM1) ENSP00000310515.3:p.Arg47=
ENST00000572173.1:c.-515-14207G>T (RMI2) ENSP00000461206.1:n.-515-14207G>T
ENST00000573910.1:n.160+31231G>T (RMI2)
NM_002761.2:c.139C>A (PRM1) NP_002752.1:p.Arg47=
XR_933070.1:n.733+31231G>T
XR_933070.3:n.876+31231G>T
NM_002761.3:c.139C>A (PRM1) MANE Select NP_002752.1:p.Arg47=
Search 100 bp 5'
Search 100 bp 3'