Canonical Allele Identifier: CA355012325
Community Standard Title: NM_174878.3(CLRN1):c.2T>C (p.Met1Thr)
Gene: CLRN1 HGNC NCBI
CLRN1-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.150972707A>G , CM000665.2:g.150972707A>G GRCh38
NC_000003.11:g.150690494A>G , CM000665.1:g.150690494A>G GRCh37
NC_000003.10:g.152173184A>G NCBI36
NG_009168.1:g.5293T>C , LRG_700:g.5293T>C

Transcript Alleles

HGVS Amino-acid Change
NM_174878.3:c.2T>C (CLRN1) MANE Select NP_777367.1:p.Met1Thr
ENST00000327047.6:c.2T>C (CLRN1) MANE Select ENSP00000322280.1:p.Met1Thr
NM_001195794.1:c.2T>C , LRG_700t1:c.2T>C (CLRN1) NP_001182723.1:p.Met1Thr
NM_001256819.1:c.2T>C (CLRN1) NP_001243748.1:p.Met1Thr
NM_001256819.2:c.2T>C (CLRN1) NP_001243748.1:p.Met1Thr
NM_174878.2:c.2T>C (CLRN1) NP_777367.1:p.Met1Thr
NR_024066.1:n.30A>G (CLRN1-AS1)
NR_024066.2:n.30A>G (CLRN1-AS1)
NR_046380.2:n.293T>C (CLRN1)
NR_046380.3:n.21T>C (CLRN1)
ENST00000327047.5:c.2T>C (CLRN1) ENSP00000322280.1:p.Met1Thr
ENST00000328863.8:c.2T>C (CLRN1) ENSP00000329158.4:p.Met1Thr
ENST00000472224.1:n.8T>C (CLRN1)
XR_924167.1:n.314T>C (CLRN1)