Canonical Allele Identifier: CA2666085

Gene: CLRN1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.150941693G>A , CM000665.2:g.150941693G>A	GRCh38
NC_000003.11:g.150659480G>A , CM000665.1:g.150659480G>A	GRCh37
NC_000003.10:g.152142170G>A	NCBI36
NG_009168.1:g.36307C>T , LRG_700:g.36307C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_174878.3:c.322C>T MANE Select	NP_777367.1:p.Leu108Phe
ENST00000327047.6:c.322C>T MANE Select	ENSP00000322280.1:p.Leu108Phe
NM_001195794.1:c.322C>T , LRG_700t1:c.322C>T	NP_001182723.1:p.Leu108Phe
NM_001256819.1:c.494C>T	NP_001243748.1:p.Pro165Leu
NM_001256819.2:c.494C>T	NP_001243748.1:p.Pro165Leu
NM_052995.2:c.94C>T , LRG_700t2:c.94C>T	NP_443721.1:p.Leu32Phe
NM_174878.2:c.322C>T	NP_777367.1:p.Leu108Phe
NR_046380.2:n.764C>T
NR_046380.3:n.492C>T
ENST00000295911.6:c.94C>T	ENSP00000295911.2:p.Leu32Phe
ENST00000327047.5:c.322C>T	ENSP00000322280.1:p.Leu108Phe
ENST00000328863.8:c.322C>T	ENSP00000329158.4:p.Leu108Phe
ENST00000468836.1:c.94C>T	ENSP00000419892.1:p.Leu32Phe
ENST00000468836.2:c.470C>T	ENSP00000419892.2:p.Pro157Leu
ENST00000472224.1:n.328C>T
ENST00000485607.1:c.-15C>T	ENSP00000419244.1:n.-15C>T
ENST00000565169.1:c.51C>T
ENST00000569170.5:c.51C>T
ENST00000644099.1:c.314C>T	ENSP00000494762.1:n.314C>T
XR_924167.1:n.634C>T