Canonical Allele Identifier: CA354955255

Gene: CLRN1

Linked Data

• MyVariant Identifiers: chr3:g.150659369C>G (hg19) ; chr3:g.150941582C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.150941582C>G , CM000665.2:g.150941582C>G	GRCh38
NC_000003.11:g.150659369C>G , CM000665.1:g.150659369C>G	GRCh37
NC_000003.10:g.152142059C>G	NCBI36
NG_009168.1:g.36418G>C , LRG_700:g.36418G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327047.6:c.433G>C MANE Select	ENSP00000322280.1:p.Gly145Arg
ENST00000468836.2:c.581G>C	ENSP00000419892.2:n.581G>C
ENST00000644099.1:c.425G>C	ENSP00000494762.1:n.425G>C
ENST00000295911.6:c.205G>C	ENSP00000295911.2:p.Gly69Arg
ENST00000327047.5:c.433G>C	ENSP00000322280.1:p.Gly145Arg
ENST00000328863.8:c.433G>C	ENSP00000329158.4:p.Val145Leu
ENST00000468836.1:c.205G>C	ENSP00000419892.1:p.Gly69Arg
ENST00000472224.1:n.439G>C
ENST00000485607.1:c.97G>C	ENSP00000419244.1:p.Gly33Arg
ENST00000562308.5:c.104G>C
ENST00000565169.1:c.162G>C
ENST00000569170.5:c.162G>C
NM_001195794.1:c.433G>C , LRG_700t1:c.433G>C	NP_001182723.1:p.Val145Leu
NM_001256819.1:c.*47G>C	NP_001243748.1:n.*47G>C
NM_052995.2:c.205G>C , LRG_700t2:c.205G>C	NP_443721.1:p.Gly69Arg
NM_174878.2:c.433G>C	NP_777367.1:p.Gly145Arg
NR_046380.2:n.875G>C
XR_924167.1:n.745G>C
NM_001256819.2:c.*47G>C	NP_001243748.1:n.*47G>C
NM_174878.3:c.433G>C MANE Select	NP_777367.1:p.Gly145Arg
NR_046380.3:n.603G>C