Canonical Allele Identifier: CA354955317

Gene: CLRN1

Linked Data

• MyVariant Identifiers: chr3:g.150659380C>A (hg19) ; chr3:g.150941593C>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327047.6:c.422G>T MANE Select	ENSP00000322280.1:p.Ser141Ile
ENST00000468836.2:c.570G>T	ENSP00000419892.2:n.570G>T
ENST00000644099.1:c.414G>T	ENSP00000494762.1:n.414G>T
ENST00000295911.6:c.194G>T	ENSP00000295911.2:p.Ser65Ile
ENST00000327047.5:c.422G>T	ENSP00000322280.1:p.Ser141Ile
ENST00000328863.8:c.422G>T	ENSP00000329158.4:p.Ser141Ile
ENST00000468836.1:c.194G>T	ENSP00000419892.1:p.Ser65Ile
ENST00000472224.1:n.428G>T
ENST00000485607.1:c.86G>T	ENSP00000419244.1:p.Ser29Ile
ENST00000562308.5:c.93G>T
ENST00000565169.1:c.151G>T
ENST00000569170.5:c.151G>T
NM_001195794.1:c.422G>T , LRG_700t1:c.422G>T	NP_001182723.1:p.Ser141Ile
NM_001256819.1:c.*36G>T	NP_001243748.1:n.*36G>T
NM_052995.2:c.194G>T , LRG_700t2:c.194G>T	NP_443721.1:p.Ser65Ile
NM_174878.2:c.422G>T	NP_777367.1:p.Ser141Ile
NR_046380.2:n.864G>T
XR_924167.1:n.734G>T
NM_001256819.2:c.*36G>T	NP_001243748.1:n.*36G>T
NM_174878.3:c.422G>T MANE Select	NP_777367.1:p.Ser141Ile
NR_046380.3:n.592G>T