Canonical Allele Identifier: CA372847856
MyVariant.info:
Revel Score:
gnomAD v4:
ClinVar Allele:
ClinVar RCV:
ClinVar Variation:

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.5763360C>T , CM000671.2:g.5763360C>T GRCh38
NC_000009.11:g.5763360C>T , CM000671.1:g.5763360C>T GRCh37
NC_000009.10:g.5753360C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000688202.1:c.2799-12487G>A (ERMP1) ENSP00000510190.1:n.2799-12487G>A
ENST00000689364.1:c.2799-12484G>A (ERMP1) ENSP00000509092.1:n.2799-12484G>A
ENST00000414202.7:c.2333C>T (RIC1) MANE Select ENSP00000416696.2:p.Pro778Leu
ENST00000251879.10:c.2333C>T (RIC1) ENSP00000251879.6:p.Pro778Leu
ENST00000276898.3:n.3032C>T (RIC1)
ENST00000414202.6:c.2333C>T (RIC1) ENSP00000416696.2:p.Pro778Leu
ENST00000418622.7:c.2222C>T (RIC1) ENSP00000402240.4:p.Pro741Leu
ENST00000545641.5:c.2007C>T (RIC1)
NM_001135920.2:c.2333C>T (RIC1) NP_001129392.2:p.Pro778Leu
NM_001206557.1:c.2222C>T (RIC1) NP_001193486.1:p.Pro741Leu
NM_020829.3:c.2333C>T (RIC1) NP_065880.2:p.Pro778Leu
XM_005251523.2:c.2330C>T (RIC1) XP_005251580.1:p.Pro777Leu
XM_011517967.1:c.1400C>T (RIC1) XP_011516269.1:p.Pro467Leu
XM_011517968.1:c.722C>T (RIC1) XP_011516270.1:p.Pro241Leu
XR_428426.2:n.2613C>T (RIC1)
XM_005251523.3:c.2330C>T (RIC1) XP_005251580.1:p.Pro777Leu
XM_011517967.2:c.1400C>T (RIC1) XP_011516269.1:p.Pro467Leu
XM_011517968.2:c.722C>T (RIC1) XP_011516270.1:p.Pro241Leu
XM_017014934.1:c.1988C>T (RIC1) XP_016870423.1:p.Pro663Leu
XM_017014935.1:c.1988C>T (RIC1) XP_016870424.1:p.Pro663Leu
XM_017014936.1:c.1988C>T (RIC1) XP_016870425.1:p.Pro663Leu
XR_428426.3:n.2613C>T (RIC1)
NM_020829.4:c.2333C>T (RIC1) MANE Select NP_065880.2:p.Pro778Leu
NM_001135920.3:c.2333C>T (RIC1) NP_001129392.2:p.Pro778Leu
NM_001135920.4:c.2333C>T (RIC1) NP_001129392.2:p.Pro778Leu
NM_001206557.2:c.2222C>T (RIC1) NP_001193486.1:p.Pro741Leu