Canonical Allele Identifier: CA2666226
Community Standard Title: NM_174878.3(CLRN1):c.20A>T (p.Lys7Ile)
Gene: CLRN1 HGNC NCBI
CLRN1-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.150972689T>A , CM000665.2:g.150972689T>A GRCh38
NC_000003.11:g.150690476T>A , CM000665.1:g.150690476T>A GRCh37
NC_000003.10:g.152173166T>A NCBI36
NG_009168.1:g.5311A>T , LRG_700:g.5311A>T

Transcript Alleles

HGVS Amino-acid Change
NM_174878.3:c.20A>T (CLRN1) MANE Select NP_777367.1:p.Lys7Ile
ENST00000327047.6:c.20A>T (CLRN1) MANE Select ENSP00000322280.1:p.Lys7Ile
NM_001195794.1:c.20A>T , LRG_700t1:c.20A>T (CLRN1) NP_001182723.1:p.Lys7Ile
NM_001256819.1:c.20A>T (CLRN1) NP_001243748.1:p.Lys7Ile
NM_001256819.2:c.20A>T (CLRN1) NP_001243748.1:p.Lys7Ile
NM_174878.2:c.20A>T (CLRN1) NP_777367.1:p.Lys7Ile
NR_024066.1:n.12T>A (CLRN1-AS1)
NR_024066.2:n.12T>A (CLRN1-AS1)
NR_046380.2:n.311A>T (CLRN1)
NR_046380.3:n.39A>T (CLRN1)
ENST00000327047.5:c.20A>T (CLRN1) ENSP00000322280.1:p.Lys7Ile
ENST00000328863.8:c.20A>T (CLRN1) ENSP00000329158.4:p.Lys7Ile
ENST00000472224.1:n.26A>T (CLRN1)
XR_924167.1:n.332A>T (CLRN1)