Canonical Allele Identifier: CA354956112
Gene: CLRN1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.150941743T>G , CM000665.2:g.150941743T>G GRCh38
NC_000003.11:g.150659530T>G , CM000665.1:g.150659530T>G GRCh37
NC_000003.10:g.152142220T>G NCBI36
NG_009168.1:g.36257A>C , LRG_700:g.36257A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000327047.6:c.272A>C MANE Select ENSP00000322280.1:p.Lys91Thr
ENST00000468836.2:c.420A>C ENSP00000419892.2:p.Gln140His
ENST00000644099.1:c.264A>C ENSP00000494762.1:n.264A>C
ENST00000295911.6:c.44A>C ENSP00000295911.2:p.Lys15Thr
ENST00000327047.5:c.272A>C ENSP00000322280.1:p.Lys91Thr
ENST00000328863.8:c.272A>C ENSP00000329158.4:p.Lys91Thr
ENST00000468836.1:c.44A>C ENSP00000419892.1:p.Lys15Thr
ENST00000472224.1:n.278A>C
ENST00000485607.1:c.-65A>C ENSP00000419244.1:n.-65A>C
ENST00000565169.1:c.1A>C
ENST00000569170.5:c.1A>C
NM_001195794.1:c.272A>C , LRG_700t1:c.272A>C NP_001182723.1:p.Lys91Thr
NM_001256819.1:c.444A>C NP_001243748.1:p.Gln148His
NM_052995.2:c.44A>C , LRG_700t2:c.44A>C NP_443721.1:p.Lys15Thr
NM_174878.2:c.272A>C NP_777367.1:p.Lys91Thr
NR_046380.2:n.714A>C
XR_924167.1:n.584A>C
NM_001256819.2:c.444A>C NP_001243748.1:p.Gln148His
NM_174878.3:c.272A>C MANE Select NP_777367.1:p.Lys91Thr
NR_046380.3:n.442A>C