Canonical Allele Identifier: CA354955319

Gene: CLRN1

Linked Data

• MyVariant Identifiers: chr3:g.150659381T>A (hg19) ; chr3:g.150941594T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.150941594T>A , CM000665.2:g.150941594T>A	GRCh38
NC_000003.11:g.150659381T>A , CM000665.1:g.150659381T>A	GRCh37
NC_000003.10:g.152142071T>A	NCBI36
NG_009168.1:g.36406A>T , LRG_700:g.36406A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327047.6:c.421A>T MANE Select	ENSP00000322280.1:p.Ser141Cys
ENST00000468836.2:c.569A>T	ENSP00000419892.2:n.569A>T
ENST00000644099.1:c.413A>T	ENSP00000494762.1:n.413A>T
ENST00000295911.6:c.193A>T	ENSP00000295911.2:p.Ser65Cys
ENST00000327047.5:c.421A>T	ENSP00000322280.1:p.Ser141Cys
ENST00000328863.8:c.421A>T	ENSP00000329158.4:p.Ser141Cys
ENST00000468836.1:c.193A>T	ENSP00000419892.1:p.Ser65Cys
ENST00000472224.1:n.427A>T
ENST00000485607.1:c.85A>T	ENSP00000419244.1:p.Ser29Cys
ENST00000562308.5:c.92A>T
ENST00000565169.1:c.150A>T
ENST00000569170.5:c.150A>T
NM_001195794.1:c.421A>T , LRG_700t1:c.421A>T	NP_001182723.1:p.Ser141Cys
NM_001256819.1:c.*35A>T	NP_001243748.1:n.*35A>T
NM_052995.2:c.193A>T , LRG_700t2:c.193A>T	NP_443721.1:p.Ser65Cys
NM_174878.2:c.421A>T	NP_777367.1:p.Ser141Cys
NR_046380.2:n.863A>T
XR_924167.1:n.733A>T
NM_001256819.2:c.*35A>T	NP_001243748.1:n.*35A>T
NM_174878.3:c.421A>T MANE Select	NP_777367.1:p.Ser141Cys
NR_046380.3:n.591A>T