Canonical Allele Identifier: CA354953048

Gene: CLRN1

Linked Data

• ClinVar Variation Id: 1451157
• ClinVar RCV Id: RCV001993130
• dbSNP Id: rs2107927808
• MyVariant Identifiers: chr3:g.150645859G>T (hg19) ; chr3:g.150928072G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.150928072G>T , CM000665.2:g.150928072G>T	GRCh38
NC_000003.11:g.150645859G>T , CM000665.1:g.150645859G>T	GRCh37
NC_000003.10:g.152128549G>T	NCBI36
NG_009168.1:g.49928C>A , LRG_700:g.49928C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327047.6:c.563C>A MANE Select	ENSP00000322280.1:p.Ser188Ter
ENST00000468836.2:c.711C>A	ENSP00000419892.2:n.711C>A
ENST00000295911.6:c.335C>A	ENSP00000295911.2:p.Ser112Ter
ENST00000327047.5:c.563C>A	ENSP00000322280.1:p.Ser188Ter
ENST00000328863.8:c.602C>A	ENSP00000329158.4:p.Ser201Ter
ENST00000468836.1:c.335C>A	ENSP00000419892.1:p.Ser112Ter
ENST00000562308.5:c.104+13510C>A
ENST00000565169.1:c.162+13510C>A
ENST00000569170.5:c.162+13510C>A
NM_001195794.1:c.602C>A , LRG_700t1:c.602C>A	NP_001182723.1:p.Ser201Ter
NM_001256819.1:c.*177C>A	NP_001243748.1:n.*177C>A
NM_052995.2:c.335C>A , LRG_700t2:c.335C>A	NP_443721.1:p.Ser112Ter
NM_174878.2:c.563C>A	NP_777367.1:p.Ser188Ter
NR_046380.2:n.1044C>A
XR_924167.1:n.875C>A
NM_001256819.2:c.*177C>A	NP_001243748.1:n.*177C>A
NM_174878.3:c.563C>A MANE Select	NP_777367.1:p.Ser188Ter
NR_046380.3:n.772C>A