Canonical Allele Identifier: CA436265240

Gene: CLRN1

Linked Data

• ClinVar Variation Id: 1613008
• ClinVar RCV Id: RCV002171053
• dbSNP Id: rs2107950905
• MyVariant Identifiers: chr3:g.150659397T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.150941610T>C , CM000665.2:g.150941610T>C	GRCh38
NC_000003.11:g.150659397T>C , CM000665.1:g.150659397T>C	GRCh37
NC_000003.10:g.152142087T>C	NCBI36
NG_009168.1:g.36390A>G , LRG_700:g.36390A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327047.6:c.405A>G MANE Select	ENSP00000322280.1:p.Leu135=
ENST00000468836.2:c.553A>G	ENSP00000419892.2:n.553A>G
ENST00000644099.1:c.397A>G	ENSP00000494762.1:n.397A>G
ENST00000295911.6:c.177A>G	ENSP00000295911.2:p.Leu59=
ENST00000327047.5:c.405A>G	ENSP00000322280.1:p.Leu135=
ENST00000328863.8:c.405A>G	ENSP00000329158.4:p.Leu135=
ENST00000468836.1:c.177A>G	ENSP00000419892.1:p.Leu59=
ENST00000472224.1:n.411A>G
ENST00000485607.1:c.69A>G	ENSP00000419244.1:p.Leu23=
ENST00000562308.5:c.76A>G
ENST00000565169.1:c.134A>G
ENST00000569170.5:c.134A>G
NM_001195794.1:c.405A>G , LRG_700t1:c.405A>G	NP_001182723.1:p.Leu135=
NM_001256819.1:c.*19A>G	NP_001243748.1:n.*19A>G
NM_052995.2:c.177A>G , LRG_700t2:c.177A>G	NP_443721.1:p.Leu59=
NM_174878.2:c.405A>G	NP_777367.1:p.Leu135=
NR_046380.2:n.847A>G
XR_924167.1:n.717A>G
NM_001256819.2:c.*19A>G	NP_001243748.1:n.*19A>G
NM_174878.3:c.405A>G MANE Select	NP_777367.1:p.Leu135=
NR_046380.3:n.575A>G