Canonical Allele Identifier: CA354956074

Gene: CLRN1

Linked Data

• MyVariant Identifiers: chr3:g.150659524A>T (hg19) ; chr3:g.150941737A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.150941737A>T , CM000665.2:g.150941737A>T	GRCh38
NC_000003.11:g.150659524A>T , CM000665.1:g.150659524A>T	GRCh37
NC_000003.10:g.152142214A>T	NCBI36
NG_009168.1:g.36263T>A , LRG_700:g.36263T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327047.6:c.278T>A MANE Select	ENSP00000322280.1:p.Ile93Asn
ENST00000468836.2:c.426T>A	ENSP00000419892.2:p.Asn142Lys
ENST00000644099.1:c.270T>A	ENSP00000494762.1:n.270T>A
ENST00000295911.6:c.50T>A	ENSP00000295911.2:p.Ile17Asn
ENST00000327047.5:c.278T>A	ENSP00000322280.1:p.Ile93Asn
ENST00000328863.8:c.278T>A	ENSP00000329158.4:p.Ile93Asn
ENST00000468836.1:c.50T>A	ENSP00000419892.1:p.Ile17Asn
ENST00000472224.1:n.284T>A
ENST00000485607.1:c.-59T>A	ENSP00000419244.1:n.-59T>A
ENST00000565169.1:c.7T>A
ENST00000569170.5:c.7T>A
NM_001195794.1:c.278T>A , LRG_700t1:c.278T>A	NP_001182723.1:p.Ile93Asn
NM_001256819.1:c.450T>A	NP_001243748.1:p.Asn150Lys
NM_052995.2:c.50T>A , LRG_700t2:c.50T>A	NP_443721.1:p.Ile17Asn
NM_174878.2:c.278T>A	NP_777367.1:p.Ile93Asn
NR_046380.2:n.720T>A
XR_924167.1:n.590T>A
NM_001256819.2:c.450T>A	NP_001243748.1:p.Asn150Lys
NM_174878.3:c.278T>A MANE Select	NP_777367.1:p.Ile93Asn
NR_046380.3:n.448T>A