Canonical Allele Identifier: CA7902775
Gene: PRM1 HGNC NCBI
RMI2 HGNC NCBI

Linked Data

dbSNP Id: rs778124934
ExAC: 16:11374804 T / G
gnomAD v2: 16-11374804-T-G
gnomAD v3: 16-11280947-T-G
gnomAD v4: 16-11280947-T-G
MyVariant Identifiers: chr16:g.11374804T>G (hg19) chr16:g.11280947T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.11280947T>G , CM000678.2:g.11280947T>G GRCh38
NC_000016.9:g.11374804T>G , CM000678.1:g.11374804T>G GRCh37
NC_000016.8:g.11282305T>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000312511.4:c.*45A>C (PRM1) MANE Select ENSP00000310515.3:n.*45A>C
ENST00000649869.1:n.152+31169T>G (RMI2)
ENST00000312511.3:c.*45A>C (PRM1) ENSP00000310515.3:n.*45A>C
ENST00000572173.1:c.-515-14269T>G (RMI2) ENSP00000461206.1:n.-515-14269T>G
ENST00000573910.1:n.160+31169T>G (RMI2)
NM_002761.2:c.*45A>C (PRM1) NP_002752.1:n.*45A>C
XR_933070.1:n.733+31169T>G
XR_933070.3:n.876+31169T>G
NM_002761.3:c.*45A>C (PRM1) MANE Select NP_002752.1:n.*45A>C
Search 100 bp 5'
Search 100 bp 3'