Canonical Allele Identifier: CA355012322

Gene: CLRN1 CLRN1-AS1

Linked Data

• ClinVar Variation Id: 552903
• ClinVar RCV Id: RCV000668252
• dbSNP Id: rs1553776132
• MyVariant Identifiers: chr3:g.150690493C>T (hg19) ; chr3:g.150972706C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.150972706C>T , CM000665.2:g.150972706C>T	GRCh38
NC_000003.11:g.150690493C>T , CM000665.1:g.150690493C>T	GRCh37
NC_000003.10:g.152173183C>T	NCBI36
NG_009168.1:g.5294G>A , LRG_700:g.5294G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327047.6:c.3G>A (CLRN1) MANE Select	ENSP00000322280.1:p.Met1Ile
ENST00000327047.5:c.3G>A (CLRN1)	ENSP00000322280.1:p.Met1Ile
ENST00000328863.8:c.3G>A (CLRN1)	ENSP00000329158.4:p.Met1Ile
ENST00000472224.1:n.9G>A (CLRN1)
NM_001195794.1:c.3G>A , LRG_700t1:c.3G>A (CLRN1)	NP_001182723.1:p.Met1Ile
NM_001256819.1:c.3G>A (CLRN1)	NP_001243748.1:p.Met1Ile
NM_174878.2:c.3G>A (CLRN1)	NP_777367.1:p.Met1Ile
NR_024066.1:n.29C>T (CLRN1-AS1)
NR_046380.2:n.294G>A (CLRN1)
XR_924167.1:n.315G>A (CLRN1)
NR_024066.2:n.29C>T (CLRN1-AS1)
NM_001256819.2:c.3G>A (CLRN1)	NP_001243748.1:p.Met1Ile
NM_174878.3:c.3G>A (CLRN1) MANE Select	NP_777367.1:p.Met1Ile
NR_046380.3:n.22G>A (CLRN1)