Canonical Allele Identifier: CA354952845

Gene: CLRN1

Linked Data

• MyVariant Identifiers: chr3:g.150645765T>A (hg19) ; chr3:g.150927978T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.150927978T>A , CM000665.2:g.150927978T>A	GRCh38
NC_000003.11:g.150645765T>A , CM000665.1:g.150645765T>A	GRCh37
NC_000003.10:g.152128455T>A	NCBI36
NG_009168.1:g.50022A>T , LRG_700:g.50022A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327047.6:c.657A>T MANE Select	ENSP00000322280.1:p.Lys219Asn
ENST00000295911.6:c.342+87A>T	ENSP00000295911.2:n.342+87A>T
ENST00000327047.5:c.657A>T	ENSP00000322280.1:p.Lys219Asn
ENST00000328863.8:c.696A>T	ENSP00000329158.4:p.Lys232Asn
ENST00000562308.5:c.104+13604A>T
ENST00000565169.1:c.162+13604A>T
ENST00000569170.5:c.162+13604A>T
NM_001195794.1:c.696A>T , LRG_700t1:c.696A>T	NP_001182723.1:p.Lys232Asn
NM_001256819.1:c.*271A>T	NP_001243748.1:n.*271A>T
NM_052995.2:c.342+87A>T , LRG_700t2:c.342+87A>T	NP_443721.1:n.342+87A>T
NM_174878.2:c.657A>T	NP_777367.1:p.Lys219Asn
NR_046380.2:n.1138A>T
XR_924167.1:n.969A>T
NM_001256819.2:c.*271A>T	NP_001243748.1:n.*271A>T
NM_174878.3:c.657A>T MANE Select	NP_777367.1:p.Lys219Asn
NR_046380.3:n.866A>T