Canonical Allele Identifier: CA436265285

Gene: CLRN1

Linked Data

• MyVariant Identifiers: chr3:g.150659430A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.150941643A>G , CM000665.2:g.150941643A>G	GRCh38
NC_000003.11:g.150659430A>G , CM000665.1:g.150659430A>G	GRCh37
NC_000003.10:g.152142120A>G	NCBI36
NG_009168.1:g.36357T>C , LRG_700:g.36357T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327047.6:c.372T>C MANE Select	ENSP00000322280.1:p.Phe124=
ENST00000468836.2:c.520T>C	ENSP00000419892.2:p.Trp174Arg
ENST00000644099.1:c.364T>C	ENSP00000494762.1:n.364T>C
ENST00000295911.6:c.144T>C	ENSP00000295911.2:p.Phe48=
ENST00000327047.5:c.372T>C	ENSP00000322280.1:p.Phe124=
ENST00000328863.8:c.372T>C	ENSP00000329158.4:p.Phe124=
ENST00000468836.1:c.144T>C	ENSP00000419892.1:p.Phe48=
ENST00000472224.1:n.378T>C
ENST00000485607.1:c.36T>C	ENSP00000419244.1:p.Phe12=
ENST00000562308.5:c.43T>C
ENST00000565169.1:c.101T>C
ENST00000569170.5:c.101T>C
NM_001195794.1:c.372T>C , LRG_700t1:c.372T>C	NP_001182723.1:p.Phe124=
NM_001256819.1:c.544T>C	NP_001243748.1:p.Trp182Arg
NM_052995.2:c.144T>C , LRG_700t2:c.144T>C	NP_443721.1:p.Phe48=
NM_174878.2:c.372T>C	NP_777367.1:p.Phe124=
NR_046380.2:n.814T>C
XR_924167.1:n.684T>C
NM_001256819.2:c.544T>C	NP_001243748.1:p.Trp182Arg
NM_174878.3:c.372T>C MANE Select	NP_777367.1:p.Phe124=
NR_046380.3:n.542T>C