Canonical Allele Identifier: CA354953532

Gene: CLRN1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.150928203T>A , CM000665.2:g.150928203T>A	GRCh38
NC_000003.11:g.150645990T>A , CM000665.1:g.150645990T>A	GRCh37
NC_000003.10:g.152128680T>A	NCBI36
NG_009168.1:g.49797A>T , LRG_700:g.49797A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_174878.3:c.434-2A>T MANE Select	NP_777367.1:n.434-2A>T
ENST00000327047.6:c.434-2A>T MANE Select	ENSP00000322280.1:n.434-2A>T
NM_001195794.1:c.473-2A>T , LRG_700t1:c.473-2A>T	NP_001182723.1:n.473-2A>T
NM_001256819.1:c.*48-2A>T	NP_001243748.1:n.*48-2A>T
NM_001256819.2:c.*48-2A>T	NP_001243748.1:n.*48-2A>T
NM_052995.2:c.206-2A>T , LRG_700t2:c.206-2A>T	NP_443721.1:n.206-2A>T
NM_174878.2:c.434-2A>T	NP_777367.1:n.434-2A>T
NR_046380.2:n.915-2A>T
NR_046380.3:n.643-2A>T
ENST00000295911.6:c.206-2A>T	ENSP00000295911.2:n.206-2A>T
ENST00000327047.5:c.434-2A>T	ENSP00000322280.1:n.434-2A>T
ENST00000328863.8:c.473-2A>T	ENSP00000329158.4:n.473-2A>T
ENST00000468836.1:c.206-2A>T	ENSP00000419892.1:n.206-2A>T
ENST00000468836.2:c.582-2A>T	ENSP00000419892.2:n.582-2A>T
ENST00000485607.1:c.98-2A>T	ENSP00000419244.1:n.98-2A>T
ENST00000562308.5:c.104+13379A>T
ENST00000565169.1:c.162+13379A>T
ENST00000569170.5:c.162+13379A>T
XR_924167.1:n.746-2A>T