Canonical Allele Identifier: CA648575860

Gene: CLRN1

Linked Data

• gnomAD v4: 3-150926772-T-C
• COSMIC: COSN6736206

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.150926772T>C , CM000665.2:g.150926772T>C	GRCh38
NC_000003.11:g.150644559T>C , CM000665.1:g.150644559T>C	GRCh37
NC_000003.10:g.152127249T>C	NCBI36
NG_009168.1:g.51228A>G , LRG_700:g.51228A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000327047.6:c.*1164A>G MANE Select	ENSP00000322280.1:n.*1164A>G
ENST00000295911.6:c.*80A>G	ENSP00000295911.2:n.*80A>G
ENST00000327047.5:c.*1164A>G	ENSP00000322280.1:n.*1164A>G
ENST00000562308.5:c.104+14810A>G
ENST00000565169.1:c.162+14810A>G
ENST00000569170.5:c.162+14810A>G
NM_001195794.1:c.*1164A>G , LRG_700t1:c.*1164A>G	NP_001182723.1:n.*1164A>G
NM_001256819.1:c.*1477A>G	NP_001243748.1:n.*1477A>G
NM_052995.2:c.*80A>G , LRG_700t2:c.*80A>G	NP_443721.1:n.*80A>G
NM_174878.2:c.*1164A>G	NP_777367.1:n.*1164A>G
NR_046380.2:n.2344A>G
XR_924167.1:n.2175A>G
NM_001256819.2:c.*1477A>G	NP_001243748.1:n.*1477A>G
NM_174878.3:c.*1164A>G MANE Select	NP_777367.1:n.*1164A>G
NR_046380.3:n.2072A>G