Canonical Allele Identifier: CA354955315

Gene: CLRN1

Linked Data

• gnomAD v4: 3-150941593-C-G
• MyVariant Identifiers: chr3:g.150659380C>G (hg19) ; chr3:g.150941593C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.150941593C>G , CM000665.2:g.150941593C>G	GRCh38
NC_000003.11:g.150659380C>G , CM000665.1:g.150659380C>G	GRCh37
NC_000003.10:g.152142070C>G	NCBI36
NG_009168.1:g.36407G>C , LRG_700:g.36407G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327047.6:c.422G>C MANE Select	ENSP00000322280.1:p.Ser141Thr
ENST00000468836.2:c.570G>C	ENSP00000419892.2:n.570G>C
ENST00000644099.1:c.414G>C	ENSP00000494762.1:n.414G>C
ENST00000295911.6:c.194G>C	ENSP00000295911.2:p.Ser65Thr
ENST00000327047.5:c.422G>C	ENSP00000322280.1:p.Ser141Thr
ENST00000328863.8:c.422G>C	ENSP00000329158.4:p.Ser141Thr
ENST00000468836.1:c.194G>C	ENSP00000419892.1:p.Ser65Thr
ENST00000472224.1:n.428G>C
ENST00000485607.1:c.86G>C	ENSP00000419244.1:p.Ser29Thr
ENST00000562308.5:c.93G>C
ENST00000565169.1:c.151G>C
ENST00000569170.5:c.151G>C
NM_001195794.1:c.422G>C , LRG_700t1:c.422G>C	NP_001182723.1:p.Ser141Thr
NM_001256819.1:c.*36G>C	NP_001243748.1:n.*36G>C
NM_052995.2:c.194G>C , LRG_700t2:c.194G>C	NP_443721.1:p.Ser65Thr
NM_174878.2:c.422G>C	NP_777367.1:p.Ser141Thr
NR_046380.2:n.864G>C
XR_924167.1:n.734G>C
NM_001256819.2:c.*36G>C	NP_001243748.1:n.*36G>C
NM_174878.3:c.422G>C MANE Select	NP_777367.1:p.Ser141Thr
NR_046380.3:n.592G>C