Canonical Allele Identifier: CA116829

Gene: CLRN1

Linked Data

• ClinVar Variation Id: 4396
• ClinVar RCV Id: RCV000004646 ; RCV003466813
• dbSNP Id: rs121908142
• MyVariant Identifiers: chr3:g.150645973A>G (hg19) ; chr3:g.150928186A>G (hg38)
• PubMed: PMID:12145752

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.150928186A>G , CM000665.2:g.150928186A>G	GRCh38
NC_000003.11:g.150645973A>G , CM000665.1:g.150645973A>G	GRCh37
NC_000003.10:g.152128663A>G	NCBI36
NG_009168.1:g.49814T>C , LRG_700:g.49814T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327047.6:c.449T>C MANE Select	ENSP00000322280.1:p.Leu150Pro
ENST00000468836.2:c.597T>C	ENSP00000419892.2:n.597T>C
ENST00000295911.6:c.221T>C	ENSP00000295911.2:p.Leu74Pro
ENST00000327047.5:c.449T>C	ENSP00000322280.1:p.Leu150Pro
ENST00000328863.8:c.488T>C	ENSP00000329158.4:p.Leu163Pro
ENST00000468836.1:c.221T>C	ENSP00000419892.1:p.Leu74Pro
ENST00000485607.1:c.113T>C	ENSP00000419244.1:p.Leu38Pro
ENST00000562308.5:c.104+13396T>C
ENST00000565169.1:c.162+13396T>C
ENST00000569170.5:c.162+13396T>C
NM_001195794.1:c.488T>C , LRG_700t1:c.488T>C	NP_001182723.1:p.Leu163Pro
NM_001256819.1:c.*63T>C	NP_001243748.1:n.*63T>C
NM_052995.2:c.221T>C , LRG_700t2:c.221T>C	NP_443721.1:p.Leu74Pro
NM_174878.2:c.449T>C	NP_777367.1:p.Leu150Pro
NR_046380.2:n.930T>C
XR_924167.1:n.761T>C
NM_001256819.2:c.*63T>C	NP_001243748.1:n.*63T>C
NM_174878.3:c.449T>C MANE Select	NP_777367.1:p.Leu150Pro
NR_046380.3:n.658T>C