Canonical Allele Identifier: CA354953064

Gene: CLRN1

Linked Data

• ClinVar Variation Id: 2680846
• ClinVar RCV Id: RCV003468486 ; RCV003689104
• MyVariant Identifiers: chr3:g.150645867A>T (hg19) ; chr3:g.150928080A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.150928080A>T , CM000665.2:g.150928080A>T	GRCh38
NC_000003.11:g.150645867A>T , CM000665.1:g.150645867A>T	GRCh37
NC_000003.10:g.152128557A>T	NCBI36
NG_009168.1:g.49920T>A , LRG_700:g.49920T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000327047.6:c.555T>A MANE Select	ENSP00000322280.1:p.Tyr185Ter
ENST00000468836.2:c.703T>A	ENSP00000419892.2:n.703T>A
ENST00000295911.6:c.327T>A	ENSP00000295911.2:p.Tyr109Ter
ENST00000327047.5:c.555T>A	ENSP00000322280.1:p.Tyr185Ter
ENST00000328863.8:c.594T>A	ENSP00000329158.4:p.Tyr198Ter
ENST00000468836.1:c.327T>A	ENSP00000419892.1:p.Tyr109Ter
ENST00000562308.5:c.104+13502T>A
ENST00000565169.1:c.162+13502T>A
ENST00000569170.5:c.162+13502T>A
NM_001195794.1:c.594T>A , LRG_700t1:c.594T>A	NP_001182723.1:p.Tyr198Ter
NM_001256819.1:c.*169T>A	NP_001243748.1:n.*169T>A
NM_052995.2:c.327T>A , LRG_700t2:c.327T>A	NP_443721.1:p.Tyr109Ter
NM_174878.2:c.555T>A	NP_777367.1:p.Tyr185Ter
NR_046380.2:n.1036T>A
XR_924167.1:n.867T>A
NM_001256819.2:c.*169T>A	NP_001243748.1:n.*169T>A
NM_174878.3:c.555T>A MANE Select	NP_777367.1:p.Tyr185Ter
NR_046380.3:n.764T>A