Canonical Allele Identifier: CA354953325

Gene: CLRN1

Linked Data

• ClinVar Variation Id: 2485472
• ClinVar RCV Id: RCV003219424
• MyVariant Identifiers: chr3:g.150645946A>G (hg19) ; chr3:g.150928159A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.150928159A>G , CM000665.2:g.150928159A>G	GRCh38
NC_000003.11:g.150645946A>G , CM000665.1:g.150645946A>G	GRCh37
NC_000003.10:g.152128636A>G	NCBI36
NG_009168.1:g.49841T>C , LRG_700:g.49841T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327047.6:c.476T>C MANE Select	ENSP00000322280.1:p.Val159Ala
ENST00000468836.2:c.624T>C	ENSP00000419892.2:n.624T>C
ENST00000295911.6:c.248T>C	ENSP00000295911.2:p.Val83Ala
ENST00000327047.5:c.476T>C	ENSP00000322280.1:p.Val159Ala
ENST00000328863.8:c.515T>C	ENSP00000329158.4:p.Val172Ala
ENST00000468836.1:c.248T>C	ENSP00000419892.1:p.Val83Ala
ENST00000562308.5:c.104+13423T>C
ENST00000565169.1:c.162+13423T>C
ENST00000569170.5:c.162+13423T>C
NM_001195794.1:c.515T>C , LRG_700t1:c.515T>C	NP_001182723.1:p.Val172Ala
NM_001256819.1:c.*90T>C	NP_001243748.1:n.*90T>C
NM_052995.2:c.248T>C , LRG_700t2:c.248T>C	NP_443721.1:p.Val83Ala
NM_174878.2:c.476T>C	NP_777367.1:p.Val159Ala
NR_046380.2:n.957T>C
XR_924167.1:n.788T>C
NM_001256819.2:c.*90T>C	NP_001243748.1:n.*90T>C
NM_174878.3:c.476T>C MANE Select	NP_777367.1:p.Val159Ala
NR_046380.3:n.685T>C