Canonical Allele Identifier: CA717991364

Gene: PRM1 RMI2

Linked Data

• dbSNP Id: rs1334373849
• gnomAD v3: 16-11280981-A-T
• gnomAD v4: 16-11280981-A-T
• MyVariant Identifiers: chr16:g.11374838A>T (hg19) ; chr16:g.11280981A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.11280981A>T , CM000678.2:g.11280981A>T	GRCh38
NC_000016.9:g.11374838A>T , CM000678.1:g.11374838A>T	GRCh37
NC_000016.8:g.11282339A>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000312511.4:c.*11T>A (PRM1) MANE Select	ENSP00000310515.3:n.*11T>A
ENST00000649869.1:n.152+31203A>T (RMI2)
ENST00000312511.3:c.*11T>A (PRM1)	ENSP00000310515.3:n.*11T>A
ENST00000572173.1:c.-515-14235A>T (RMI2)	ENSP00000461206.1:n.-515-14235A>T
ENST00000573910.1:n.160+31203A>T (RMI2)
NM_002761.2:c.*11T>A (PRM1)	NP_002752.1:n.*11T>A
XR_933070.1:n.733+31203A>T
XR_933070.3:n.876+31203A>T
NM_002761.3:c.*11T>A (PRM1) MANE Select	NP_002752.1:n.*11T>A