Canonical Allele Identifier: CA2207531504

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.11281004A= , CM000678.2:g.11281004A= GRCh38
NC_000016.9:g.11374861A= , CM000678.1:g.11374861A= GRCh37
NC_000016.8:g.11282362A= NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000312511.4:c.144T= (PRM1) MANE Select ENSP00000310515.3:p.Cys48=
ENST00000649869.1:n.152+31226A= (RMI2)
ENST00000312511.3:c.144T= (PRM1) ENSP00000310515.3:p.Cys48=
ENST00000572173.1:c.-515-14212A= (RMI2) ENSP00000461206.1:n.-515-14212A=
ENST00000573910.1:n.160+31226A= (RMI2)
NM_002761.2:c.144T= (PRM1) NP_002752.1:p.Cys48=
XR_933070.1:n.733+31226A=
XR_933070.3:n.876+31226A=
NM_002761.3:c.144T= (PRM1) MANE Select NP_002752.1:p.Cys48=