Canonical Allele Identifier: CA354955628

Gene: CLRN1

Linked Data

• MyVariant Identifiers: chr3:g.150659455G>T (hg19) ; chr3:g.150941668G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.150941668G>T , CM000665.2:g.150941668G>T	GRCh38
NC_000003.11:g.150659455G>T , CM000665.1:g.150659455G>T	GRCh37
NC_000003.10:g.152142145G>T	NCBI36
NG_009168.1:g.36332C>A , LRG_700:g.36332C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327047.6:c.347C>A MANE Select	ENSP00000322280.1:p.Thr116Lys
ENST00000468836.2:c.495C>A	ENSP00000419892.2:p.Asp165Glu
ENST00000644099.1:c.339C>A	ENSP00000494762.1:n.339C>A
ENST00000295911.6:c.119C>A	ENSP00000295911.2:p.Thr40Lys
ENST00000327047.5:c.347C>A	ENSP00000322280.1:p.Thr116Lys
ENST00000328863.8:c.347C>A	ENSP00000329158.4:p.Thr116Lys
ENST00000468836.1:c.119C>A	ENSP00000419892.1:p.Thr40Lys
ENST00000472224.1:n.353C>A
ENST00000485607.1:c.11C>A	ENSP00000419244.1:p.Thr4Lys
ENST00000562308.5:c.18C>A
ENST00000565169.1:c.76C>A
ENST00000569170.5:c.76C>A
NM_001195794.1:c.347C>A , LRG_700t1:c.347C>A	NP_001182723.1:p.Thr116Lys
NM_001256819.1:c.519C>A	NP_001243748.1:p.Asp173Glu
NM_052995.2:c.119C>A , LRG_700t2:c.119C>A	NP_443721.1:p.Thr40Lys
NM_174878.2:c.347C>A	NP_777367.1:p.Thr116Lys
NR_046380.2:n.789C>A
XR_924167.1:n.659C>A
NM_001256819.2:c.519C>A	NP_001243748.1:p.Asp173Glu
NM_174878.3:c.347C>A MANE Select	NP_777367.1:p.Thr116Lys
NR_046380.3:n.517C>A