Canonical Allele Identifier: CA436265311

Gene: CLRN1

Linked Data

• MyVariant Identifiers: chr3:g.150659457C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.150941670C>G , CM000665.2:g.150941670C>G	GRCh38
NC_000003.11:g.150659457C>G , CM000665.1:g.150659457C>G	GRCh37
NC_000003.10:g.152142147C>G	NCBI36
NG_009168.1:g.36330G>C , LRG_700:g.36330G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327047.6:c.345G>C MANE Select	ENSP00000322280.1:p.Gly115=
ENST00000468836.2:c.493G>C	ENSP00000419892.2:p.Asp165His
ENST00000644099.1:c.337G>C	ENSP00000494762.1:n.337G>C
ENST00000295911.6:c.117G>C	ENSP00000295911.2:p.Gly39=
ENST00000327047.5:c.345G>C	ENSP00000322280.1:p.Gly115=
ENST00000328863.8:c.345G>C	ENSP00000329158.4:p.Gly115=
ENST00000468836.1:c.117G>C	ENSP00000419892.1:p.Gly39=
ENST00000472224.1:n.351G>C
ENST00000485607.1:c.9G>C	ENSP00000419244.1:p.Gly3=
ENST00000562308.5:c.16G>C
ENST00000565169.1:c.74G>C
ENST00000569170.5:c.74G>C
NM_001195794.1:c.345G>C , LRG_700t1:c.345G>C	NP_001182723.1:p.Gly115=
NM_001256819.1:c.517G>C	NP_001243748.1:p.Asp173His
NM_052995.2:c.117G>C , LRG_700t2:c.117G>C	NP_443721.1:p.Gly39=
NM_174878.2:c.345G>C	NP_777367.1:p.Gly115=
NR_046380.2:n.787G>C
XR_924167.1:n.657G>C
NM_001256819.2:c.517G>C	NP_001243748.1:p.Asp173His
NM_174878.3:c.345G>C MANE Select	NP_777367.1:p.Gly115=
NR_046380.3:n.515G>C