Canonical Allele Identifier: CA354955297

Gene: CLRN1

Linked Data

• dbSNP Id: rs1713843722
• MyVariant Identifiers: chr3:g.150659376G>T (hg19) ; chr3:g.150941589G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.150941589G>T , CM000665.2:g.150941589G>T	GRCh38
NC_000003.11:g.150659376G>T , CM000665.1:g.150659376G>T	GRCh37
NC_000003.10:g.152142066G>T	NCBI36
NG_009168.1:g.36411C>A , LRG_700:g.36411C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327047.6:c.426C>A MANE Select	ENSP00000322280.1:p.Phe142Leu
ENST00000468836.2:c.574C>A	ENSP00000419892.2:n.574C>A
ENST00000644099.1:c.418C>A	ENSP00000494762.1:n.418C>A
ENST00000295911.6:c.198C>A	ENSP00000295911.2:p.Phe66Leu
ENST00000327047.5:c.426C>A	ENSP00000322280.1:p.Phe142Leu
ENST00000328863.8:c.426C>A	ENSP00000329158.4:p.Phe142Leu
ENST00000468836.1:c.198C>A	ENSP00000419892.1:p.Phe66Leu
ENST00000472224.1:n.432C>A
ENST00000485607.1:c.90C>A	ENSP00000419244.1:p.Phe30Leu
ENST00000562308.5:c.97C>A
ENST00000565169.1:c.155C>A
ENST00000569170.5:c.155C>A
NM_001195794.1:c.426C>A , LRG_700t1:c.426C>A	NP_001182723.1:p.Phe142Leu
NM_001256819.1:c.*40C>A	NP_001243748.1:n.*40C>A
NM_052995.2:c.198C>A , LRG_700t2:c.198C>A	NP_443721.1:p.Phe66Leu
NM_174878.2:c.426C>A	NP_777367.1:p.Phe142Leu
NR_046380.2:n.868C>A
XR_924167.1:n.738C>A
NM_001256819.2:c.*40C>A	NP_001243748.1:n.*40C>A
NM_174878.3:c.426C>A MANE Select	NP_777367.1:p.Phe142Leu
NR_046380.3:n.596C>A