Canonical Allele Identifier: CA2577935458
Gene: CLRN1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.150940594G>T , CM000665.2:g.150940594G>T GRCh38
NC_000003.11:g.150658381G>T , CM000665.1:g.150658381G>T GRCh37
NC_000003.10:g.152141071G>T NCBI36
NG_009168.1:g.37406C>A , LRG_700:g.37406C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000327047.6:c.433+988C>A MANE Select ENSP00000322280.1:n.433+988C>A
ENST00000468836.2:c.581+988C>A ENSP00000419892.2:n.581+988C>A
ENST00000644099.1:c.426-75C>A ENSP00000494762.1:n.426-75C>A
ENST00000295911.6:c.205+988C>A ENSP00000295911.2:n.205+988C>A
ENST00000327047.5:c.433+988C>A ENSP00000322280.1:n.433+988C>A
ENST00000328863.8:c.434-75C>A ENSP00000329158.4:n.434-75C>A
ENST00000468836.1:c.205+988C>A ENSP00000419892.1:n.205+988C>A
ENST00000485607.1:c.97+988C>A ENSP00000419244.1:n.97+988C>A
ENST00000562308.5:c.104+988C>A
ENST00000565169.1:c.162+988C>A
ENST00000569170.5:c.162+988C>A
NM_001195794.1:c.434-75C>A , LRG_700t1:c.434-75C>A NP_001182723.1:n.434-75C>A
NM_001256819.1:c.*47+988C>A NP_001243748.1:n.*47+988C>A
NM_052995.2:c.205+988C>A , LRG_700t2:c.205+988C>A NP_443721.1:n.205+988C>A
NM_174878.2:c.433+988C>A NP_777367.1:n.433+988C>A
NR_046380.2:n.876-75C>A
XR_924167.1:n.745+988C>A
NM_001256819.2:c.*47+988C>A NP_001243748.1:n.*47+988C>A
NM_174878.3:c.433+988C>A MANE Select NP_777367.1:n.433+988C>A
NR_046380.3:n.604-75C>A