Canonical Allele Identifier: CA436265309

Gene: CLRN1

Linked Data

• MyVariant Identifiers: chr3:g.150659454T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.150941667T>G , CM000665.2:g.150941667T>G	GRCh38
NC_000003.11:g.150659454T>G , CM000665.1:g.150659454T>G	GRCh37
NC_000003.10:g.152142144T>G	NCBI36
NG_009168.1:g.36333A>C , LRG_700:g.36333A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000327047.6:c.348A>C MANE Select	ENSP00000322280.1:p.Thr116=
ENST00000468836.2:c.496A>C	ENSP00000419892.2:p.Ser166Arg
ENST00000644099.1:c.340A>C	ENSP00000494762.1:n.340A>C
ENST00000295911.6:c.120A>C	ENSP00000295911.2:p.Thr40=
ENST00000327047.5:c.348A>C	ENSP00000322280.1:p.Thr116=
ENST00000328863.8:c.348A>C	ENSP00000329158.4:p.Thr116=
ENST00000468836.1:c.120A>C	ENSP00000419892.1:p.Thr40=
ENST00000472224.1:n.354A>C
ENST00000485607.1:c.12A>C	ENSP00000419244.1:p.Thr4=
ENST00000562308.5:c.19A>C
ENST00000565169.1:c.77A>C
ENST00000569170.5:c.77A>C
NM_001195794.1:c.348A>C , LRG_700t1:c.348A>C	NP_001182723.1:p.Thr116=
NM_001256819.1:c.520A>C	NP_001243748.1:p.Ser174Arg
NM_052995.2:c.120A>C , LRG_700t2:c.120A>C	NP_443721.1:p.Thr40=
NM_174878.2:c.348A>C	NP_777367.1:p.Thr116=
NR_046380.2:n.790A>C
XR_924167.1:n.660A>C
NM_001256819.2:c.520A>C	NP_001243748.1:p.Ser174Arg
NM_174878.3:c.348A>C MANE Select	NP_777367.1:p.Thr116=
NR_046380.3:n.518A>C