Canonical Allele Identifier: CA436265211

Gene: CLRN1

Linked Data

• ClinVar Variation Id: 2126732
• ClinVar RCV Id: RCV003051810
• MyVariant Identifiers: chr3:g.150659379G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.150941592G>A , CM000665.2:g.150941592G>A	GRCh38
NC_000003.11:g.150659379G>A , CM000665.1:g.150659379G>A	GRCh37
NC_000003.10:g.152142069G>A	NCBI36
NG_009168.1:g.36408C>T , LRG_700:g.36408C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327047.6:c.423C>T MANE Select	ENSP00000322280.1:p.Ser141=
ENST00000468836.2:c.571C>T	ENSP00000419892.2:n.571C>T
ENST00000644099.1:c.415C>T	ENSP00000494762.1:n.415C>T
ENST00000295911.6:c.195C>T	ENSP00000295911.2:p.Ser65=
ENST00000327047.5:c.423C>T	ENSP00000322280.1:p.Ser141=
ENST00000328863.8:c.423C>T	ENSP00000329158.4:p.Ser141=
ENST00000468836.1:c.195C>T	ENSP00000419892.1:p.Ser65=
ENST00000472224.1:n.429C>T
ENST00000485607.1:c.87C>T	ENSP00000419244.1:p.Ser29=
ENST00000562308.5:c.94C>T
ENST00000565169.1:c.152C>T
ENST00000569170.5:c.152C>T
NM_001195794.1:c.423C>T , LRG_700t1:c.423C>T	NP_001182723.1:p.Ser141=
NM_001256819.1:c.*37C>T	NP_001243748.1:n.*37C>T
NM_052995.2:c.195C>T , LRG_700t2:c.195C>T	NP_443721.1:p.Ser65=
NM_174878.2:c.423C>T	NP_777367.1:p.Ser141=
NR_046380.2:n.865C>T
XR_924167.1:n.735C>T
NM_001256819.2:c.*37C>T	NP_001243748.1:n.*37C>T
NM_174878.3:c.423C>T MANE Select	NP_777367.1:p.Ser141=
NR_046380.3:n.593C>T