Canonical Allele Identifier: CA354953068

Gene: CLRN1

Linked Data

• dbSNP Id: rs1712926345
• gnomAD v4: 3-150928082-A-C
• MyVariant Identifiers: chr3:g.150645869A>C (hg19) ; chr3:g.150928082A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.150928082A>C , CM000665.2:g.150928082A>C	GRCh38
NC_000003.11:g.150645869A>C , CM000665.1:g.150645869A>C	GRCh37
NC_000003.10:g.152128559A>C	NCBI36
NG_009168.1:g.49918T>G , LRG_700:g.49918T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000327047.6:c.553T>G MANE Select	ENSP00000322280.1:p.Tyr185Asp
ENST00000468836.2:c.701T>G	ENSP00000419892.2:n.701T>G
ENST00000295911.6:c.325T>G	ENSP00000295911.2:p.Tyr109Asp
ENST00000327047.5:c.553T>G	ENSP00000322280.1:p.Tyr185Asp
ENST00000328863.8:c.592T>G	ENSP00000329158.4:p.Tyr198Asp
ENST00000468836.1:c.325T>G	ENSP00000419892.1:p.Tyr109Asp
ENST00000562308.5:c.104+13500T>G
ENST00000565169.1:c.162+13500T>G
ENST00000569170.5:c.162+13500T>G
NM_001195794.1:c.592T>G , LRG_700t1:c.592T>G	NP_001182723.1:p.Tyr198Asp
NM_001256819.1:c.*167T>G	NP_001243748.1:n.*167T>G
NM_052995.2:c.325T>G , LRG_700t2:c.325T>G	NP_443721.1:p.Tyr109Asp
NM_174878.2:c.553T>G	NP_777367.1:p.Tyr185Asp
NR_046380.2:n.1034T>G
XR_924167.1:n.865T>G
NM_001256819.2:c.*167T>G	NP_001243748.1:n.*167T>G
NM_174878.3:c.553T>G MANE Select	NP_777367.1:p.Tyr185Asp
NR_046380.3:n.762T>G