Canonical Allele Identifier: CA436264775
Gene: CLRN1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr3:g.150658284G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.150940497G>C , CM000665.2:g.150940497G>C GRCh38
NC_000003.11:g.150658284G>C , CM000665.1:g.150658284G>C GRCh37
NC_000003.10:g.152140974G>C NCBI36
NG_009168.1:g.37503C>G , LRG_700:g.37503C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000327047.6:c.433+1085C>G MANE Select ENSP00000322280.1:n.433+1085C>G
ENST00000468836.2:c.581+1085C>G ENSP00000419892.2:n.581+1085C>G
ENST00000644099.1:c.448C>G ENSP00000494762.1:n.448C>G
ENST00000295911.6:c.205+1085C>G ENSP00000295911.2:n.205+1085C>G
ENST00000327047.5:c.433+1085C>G ENSP00000322280.1:n.433+1085C>G
ENST00000328863.8:c.456C>G ENSP00000329158.4:p.Thr152=
ENST00000468836.1:c.205+1085C>G ENSP00000419892.1:n.205+1085C>G
ENST00000485607.1:c.97+1085C>G ENSP00000419244.1:n.97+1085C>G
ENST00000562308.5:c.104+1085C>G
ENST00000565169.1:c.162+1085C>G
ENST00000569170.5:c.162+1085C>G
NM_001195794.1:c.456C>G , LRG_700t1:c.456C>G NP_001182723.1:p.Thr152=
NM_001256819.1:c.*47+1085C>G NP_001243748.1:n.*47+1085C>G
NM_052995.2:c.205+1085C>G , LRG_700t2:c.205+1085C>G NP_443721.1:n.205+1085C>G
NM_174878.2:c.433+1085C>G NP_777367.1:n.433+1085C>G
NR_046380.2:n.898C>G
XR_924167.1:n.745+1085C>G
NM_001256819.2:c.*47+1085C>G NP_001243748.1:n.*47+1085C>G
NM_174878.3:c.433+1085C>G MANE Select NP_777367.1:n.433+1085C>G
NR_046380.3:n.626C>G