Canonical Allele Identifier: CA354952857

Gene: CLRN1

Linked Data

• gnomAD v4: 3-150927983-A-G
• MyVariant Identifiers: chr3:g.150645770A>G (hg19) ; chr3:g.150927983A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.150927983A>G , CM000665.2:g.150927983A>G	GRCh38
NC_000003.11:g.150645770A>G , CM000665.1:g.150645770A>G	GRCh37
NC_000003.10:g.152128460A>G	NCBI36
NG_009168.1:g.50017T>C , LRG_700:g.50017T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327047.6:c.652T>C MANE Select	ENSP00000322280.1:p.Ser218Pro
ENST00000295911.6:c.342+82T>C	ENSP00000295911.2:n.342+82T>C
ENST00000327047.5:c.652T>C	ENSP00000322280.1:p.Ser218Pro
ENST00000328863.8:c.691T>C	ENSP00000329158.4:p.Ser231Pro
ENST00000562308.5:c.104+13599T>C
ENST00000565169.1:c.162+13599T>C
ENST00000569170.5:c.162+13599T>C
NM_001195794.1:c.691T>C , LRG_700t1:c.691T>C	NP_001182723.1:p.Ser231Pro
NM_001256819.1:c.*266T>C	NP_001243748.1:n.*266T>C
NM_052995.2:c.342+82T>C , LRG_700t2:c.342+82T>C	NP_443721.1:n.342+82T>C
NM_174878.2:c.652T>C	NP_777367.1:p.Ser218Pro
NR_046380.2:n.1133T>C
XR_924167.1:n.964T>C
NM_001256819.2:c.*266T>C	NP_001243748.1:n.*266T>C
NM_174878.3:c.652T>C MANE Select	NP_777367.1:p.Ser218Pro
NR_046380.3:n.861T>C