Canonical Allele Identifier: CA436402915
Gene: CLRN1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr3:g.150690261T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.150972474T>G , CM000665.2:g.150972474T>G GRCh38
NC_000003.11:g.150690261T>G , CM000665.1:g.150690261T>G GRCh37
NC_000003.10:g.152172951T>G NCBI36
NG_009168.1:g.5526A>C , LRG_700:g.5526A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000327047.6:c.235A>C MANE Select ENSP00000322280.1:p.Arg79=
ENST00000468836.2:c.211A>C ENSP00000419892.2:p.Arg71=
ENST00000644099.1:c.76A>C ENSP00000494762.1:p.Arg26=
ENST00000645441.1:c.77A>C
ENST00000327047.5:c.235A>C ENSP00000322280.1:p.Arg79=
ENST00000328863.8:c.235A>C ENSP00000329158.4:p.Arg79=
ENST00000468836.1:c.-166A>C ENSP00000419892.1:n.-166A>C
ENST00000472224.1:n.241A>C
NM_001195794.1:c.235A>C , LRG_700t1:c.235A>C NP_001182723.1:p.Arg79=
NM_001256819.1:c.235A>C NP_001243748.1:p.Arg79=
NM_174878.2:c.235A>C NP_777367.1:p.Arg79=
NR_046380.2:n.526A>C
XR_924167.1:n.547A>C
NM_001256819.2:c.235A>C NP_001243748.1:p.Arg79=
NM_174878.3:c.235A>C MANE Select NP_777367.1:p.Arg79=
NR_046380.3:n.254A>C