Canonical Allele Identifier: CA354953407

Gene: CLRN1

Linked Data

• MyVariant Identifiers: chr3:g.150645965T>A (hg19) ; chr3:g.150928178T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.150928178T>A , CM000665.2:g.150928178T>A	GRCh38
NC_000003.11:g.150645965T>A , CM000665.1:g.150645965T>A	GRCh37
NC_000003.10:g.152128655T>A	NCBI36
NG_009168.1:g.49822A>T , LRG_700:g.49822A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327047.6:c.457A>T MANE Select	ENSP00000322280.1:p.Ile153Leu
ENST00000468836.2:c.605A>T	ENSP00000419892.2:n.605A>T
ENST00000295911.6:c.229A>T	ENSP00000295911.2:p.Ile77Leu
ENST00000327047.5:c.457A>T	ENSP00000322280.1:p.Ile153Leu
ENST00000328863.8:c.496A>T	ENSP00000329158.4:p.Ile166Leu
ENST00000468836.1:c.229A>T	ENSP00000419892.1:p.Ile77Leu
ENST00000562308.5:c.104+13404A>T
ENST00000565169.1:c.162+13404A>T
ENST00000569170.5:c.162+13404A>T
NM_001195794.1:c.496A>T , LRG_700t1:c.496A>T	NP_001182723.1:p.Ile166Leu
NM_001256819.1:c.*71A>T	NP_001243748.1:n.*71A>T
NM_052995.2:c.229A>T , LRG_700t2:c.229A>T	NP_443721.1:p.Ile77Leu
NM_174878.2:c.457A>T	NP_777367.1:p.Ile153Leu
NR_046380.2:n.938A>T
XR_924167.1:n.769A>T
NM_001256819.2:c.*71A>T	NP_001243748.1:n.*71A>T
NM_174878.3:c.457A>T MANE Select	NP_777367.1:p.Ile153Leu
NR_046380.3:n.666A>T