Canonical Allele Identifier: CA354953105

Gene: CLRN1

Linked Data

• MyVariant Identifiers: chr3:g.150645885T>A (hg19) ; chr3:g.150928098T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.150928098T>A , CM000665.2:g.150928098T>A	GRCh38
NC_000003.11:g.150645885T>A , CM000665.1:g.150645885T>A	GRCh37
NC_000003.10:g.152128575T>A	NCBI36
NG_009168.1:g.49902A>T , LRG_700:g.49902A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327047.6:c.537A>T MANE Select	ENSP00000322280.1:p.Lys179Asn
ENST00000468836.2:c.685A>T	ENSP00000419892.2:n.685A>T
ENST00000295911.6:c.309A>T	ENSP00000295911.2:p.Lys103Asn
ENST00000327047.5:c.537A>T	ENSP00000322280.1:p.Lys179Asn
ENST00000328863.8:c.576A>T	ENSP00000329158.4:p.Lys192Asn
ENST00000468836.1:c.309A>T	ENSP00000419892.1:p.Lys103Asn
ENST00000562308.5:c.104+13484A>T
ENST00000565169.1:c.162+13484A>T
ENST00000569170.5:c.162+13484A>T
NM_001195794.1:c.576A>T , LRG_700t1:c.576A>T	NP_001182723.1:p.Lys192Asn
NM_001256819.1:c.*151A>T	NP_001243748.1:n.*151A>T
NM_052995.2:c.309A>T , LRG_700t2:c.309A>T	NP_443721.1:p.Lys103Asn
NM_174878.2:c.537A>T	NP_777367.1:p.Lys179Asn
NR_046380.2:n.1018A>T
XR_924167.1:n.849A>T
NM_001256819.2:c.*151A>T	NP_001243748.1:n.*151A>T
NM_174878.3:c.537A>T MANE Select	NP_777367.1:p.Lys179Asn
NR_046380.3:n.746A>T