Canonical Allele Identifier: CA394743802
Gene: PRM1 HGNC NCBI
RMI2 HGNC NCBI

Linked Data

dbSNP Id: rs1390704960
gnomAD v2: 16-11375093-C-T
gnomAD v3: 16-11281236-C-T
gnomAD v4: 16-11281236-C-T
MyVariant Identifiers: chr16:g.11375093C>T (hg19) chr16:g.11281236C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.11281236C>T , CM000678.2:g.11281236C>T GRCh38
NC_000016.9:g.11375093C>T , CM000678.1:g.11375093C>T GRCh37
NC_000016.8:g.11282594C>T NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000312511.4:c.3G>A (PRM1) MANE Select ENSP00000310515.3:p.Met1Ile
ENST00000649869.1:n.152+31458C>T (RMI2)
ENST00000312511.3:c.3G>A (PRM1) ENSP00000310515.3:p.Met1Ile
ENST00000572173.1:c.-515-13980C>T (RMI2) ENSP00000461206.1:n.-515-13980C>T
ENST00000573910.1:n.160+31458C>T (RMI2)
NM_002761.2:c.3G>A (PRM1) NP_002752.1:p.Met1Ile
XR_933070.1:n.733+31458C>T
XR_933070.3:n.876+31458C>T
NM_002761.3:c.3G>A (PRM1) MANE Select NP_002752.1:p.Met1Ile
Search 100 bp 5'
Search 100 bp 3'