Canonical Allele Identifier: CA1410883131

Gene: CLRN1

Linked Data

• dbSNP Id: rs1559976364
• gnomAD v4: 3-150927854-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.150927854A>G , CM000665.2:g.150927854A>G	GRCh38
NC_000003.11:g.150645641A>G , CM000665.1:g.150645641A>G	GRCh37
NC_000003.10:g.152128331A>G	NCBI36
NG_009168.1:g.50146T>C , LRG_700:g.50146T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327047.6:c.*82T>C MANE Select	ENSP00000322280.1:n.*82T>C
ENST00000295911.6:c.342+211T>C	ENSP00000295911.2:n.342+211T>C
ENST00000327047.5:c.*82T>C	ENSP00000322280.1:n.*82T>C
ENST00000562308.5:c.104+13728T>C
ENST00000565169.1:c.162+13728T>C
ENST00000569170.5:c.162+13728T>C
NM_001195794.1:c.*82T>C , LRG_700t1:c.*82T>C	NP_001182723.1:n.*82T>C
NM_001256819.1:c.*395T>C	NP_001243748.1:n.*395T>C
NM_052995.2:c.342+211T>C , LRG_700t2:c.342+211T>C	NP_443721.1:n.342+211T>C
NM_174878.2:c.*82T>C	NP_777367.1:n.*82T>C
NR_046380.2:n.1262T>C
XR_924167.1:n.1093T>C
NM_001256819.2:c.*395T>C	NP_001243748.1:n.*395T>C
NM_174878.3:c.*82T>C MANE Select	NP_777367.1:n.*82T>C
NR_046380.3:n.990T>C