Canonical Allele Identifier: CA354953522

Gene: CLRN1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.150928201C>A , CM000665.2:g.150928201C>A	GRCh38
NC_000003.11:g.150645988C>A , CM000665.1:g.150645988C>A	GRCh37
NC_000003.10:g.152128678C>A	NCBI36
NG_009168.1:g.49799G>T , LRG_700:g.49799G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_174878.3:c.434G>T MANE Select	NP_777367.1:p.Gly145Val
ENST00000327047.6:c.434G>T MANE Select	ENSP00000322280.1:p.Gly145Val
NM_001195794.1:c.473G>T , LRG_700t1:c.473G>T	NP_001182723.1:p.Gly158Val
NM_001256819.1:c.*48G>T	NP_001243748.1:n.*48G>T
NM_001256819.2:c.*48G>T	NP_001243748.1:n.*48G>T
NM_052995.2:c.206G>T , LRG_700t2:c.206G>T	NP_443721.1:p.Gly69Val
NM_174878.2:c.434G>T	NP_777367.1:p.Gly145Val
NR_046380.2:n.915G>T
NR_046380.3:n.643G>T
ENST00000295911.6:c.206G>T	ENSP00000295911.2:p.Gly69Val
ENST00000327047.5:c.434G>T	ENSP00000322280.1:p.Gly145Val
ENST00000328863.8:c.473G>T	ENSP00000329158.4:p.Gly158Val
ENST00000468836.1:c.206G>T	ENSP00000419892.1:p.Gly69Val
ENST00000468836.2:c.582G>T	ENSP00000419892.2:n.582G>T
ENST00000485607.1:c.98G>T	ENSP00000419244.1:p.Gly33Val
ENST00000562308.5:c.104+13381G>T
ENST00000565169.1:c.162+13381G>T
ENST00000569170.5:c.162+13381G>T
XR_924167.1:n.746G>T