Canonical Allele Identifier: CA717991328
Gene: PRM1 HGNC NCBI
RMI2 HGNC NCBI

Linked Data

dbSNP Id: rs1185286512
gnomAD v4: 16-11280943-C-A
MyVariant Identifiers: chr16:g.11374800C>A (hg19) chr16:g.11280943C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.11280943C>A , CM000678.2:g.11280943C>A GRCh38
NC_000016.9:g.11374800C>A , CM000678.1:g.11374800C>A GRCh37
NC_000016.8:g.11282301C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000312511.4:c.*49G>T (PRM1) MANE Select ENSP00000310515.3:n.*49G>T
ENST00000649869.1:n.152+31165C>A (RMI2)
ENST00000312511.3:c.*49G>T (PRM1) ENSP00000310515.3:n.*49G>T
ENST00000572173.1:c.-515-14273C>A (RMI2) ENSP00000461206.1:n.-515-14273C>A
ENST00000573910.1:n.160+31165C>A (RMI2)
NM_002761.2:c.*49G>T (PRM1) NP_002752.1:n.*49G>T
XR_933070.1:n.733+31165C>A
XR_933070.3:n.876+31165C>A
NM_002761.3:c.*49G>T (PRM1) MANE Select NP_002752.1:n.*49G>T
Search 100 bp 5'
Search 100 bp 3'