Canonical Allele Identifier: CA354953061

Gene: CLRN1

Linked Data

• dbSNP Id: rs1248727392
• gnomAD v2: 3-150645866-T-C
• MyVariant Identifiers: chr3:g.150645866T>C (hg19) ; chr3:g.150928079T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.150928079T>C , CM000665.2:g.150928079T>C	GRCh38
NC_000003.11:g.150645866T>C , CM000665.1:g.150645866T>C	GRCh37
NC_000003.10:g.152128556T>C	NCBI36
NG_009168.1:g.49921A>G , LRG_700:g.49921A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000327047.6:c.556A>G MANE Select	ENSP00000322280.1:p.Thr186Ala
ENST00000468836.2:c.704A>G	ENSP00000419892.2:n.704A>G
ENST00000295911.6:c.328A>G	ENSP00000295911.2:p.Thr110Ala
ENST00000327047.5:c.556A>G	ENSP00000322280.1:p.Thr186Ala
ENST00000328863.8:c.595A>G	ENSP00000329158.4:p.Thr199Ala
ENST00000468836.1:c.328A>G	ENSP00000419892.1:p.Thr110Ala
ENST00000562308.5:c.104+13503A>G
ENST00000565169.1:c.162+13503A>G
ENST00000569170.5:c.162+13503A>G
NM_001195794.1:c.595A>G , LRG_700t1:c.595A>G	NP_001182723.1:p.Thr199Ala
NM_001256819.1:c.*170A>G	NP_001243748.1:n.*170A>G
NM_052995.2:c.328A>G , LRG_700t2:c.328A>G	NP_443721.1:p.Thr110Ala
NM_174878.2:c.556A>G	NP_777367.1:p.Thr186Ala
NR_046380.2:n.1037A>G
XR_924167.1:n.868A>G
NM_001256819.2:c.*170A>G	NP_001243748.1:n.*170A>G
NM_174878.3:c.556A>G MANE Select	NP_777367.1:p.Thr186Ala
NR_046380.3:n.765A>G