Canonical Allele Identifier: CA7902826

Gene: PRM1 RMI2

Linked Data

• dbSNP Id: rs35262993
• ExAC: 16:11375042 C / T
• gnomAD v2: 16-11375042-C-T
• gnomAD v3: 16-11281185-C-T
• gnomAD v4: 16-11281185-C-T
• MyVariant Identifiers: chr16:g.11375042C>T (hg19) ; chr16:g.11281185C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.11281185C>T , CM000678.2:g.11281185C>T	GRCh38
NC_000016.9:g.11375042C>T , CM000678.1:g.11375042C>T	GRCh37
NC_000016.8:g.11282543C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000312511.4:c.54G>A (PRM1) MANE Select	ENSP00000310515.3:p.Gln18=
ENST00000649869.1:n.152+31407C>T (RMI2)
ENST00000312511.3:c.54G>A (PRM1)	ENSP00000310515.3:p.Gln18=
ENST00000572173.1:c.-515-14031C>T (RMI2)	ENSP00000461206.1:n.-515-14031C>T
ENST00000573910.1:n.160+31407C>T (RMI2)
NM_002761.2:c.54G>A (PRM1)	NP_002752.1:p.Gln18=
XR_933070.1:n.733+31407C>T
XR_933070.3:n.876+31407C>T
NM_002761.3:c.54G>A (PRM1) MANE Select	NP_002752.1:p.Gln18=