Canonical Allele Identifier: CA354952106

Gene: CLRN1

Linked Data

• MyVariant Identifiers: chr3:g.150644658A>G (hg19) ; chr3:g.150926871A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.150926871A>G , CM000665.2:g.150926871A>G	GRCh38
NC_000003.11:g.150644658A>G , CM000665.1:g.150644658A>G	GRCh37
NC_000003.10:g.152127348A>G	NCBI36
NG_009168.1:g.51129T>C , LRG_700:g.51129T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327047.6:c.*1065T>C MANE Select	ENSP00000322280.1:n.*1065T>C
ENST00000295911.6:c.344T>C	ENSP00000295911.2:p.Leu115Pro
ENST00000327047.5:c.*1065T>C	ENSP00000322280.1:n.*1065T>C
ENST00000562308.5:c.104+14711T>C
ENST00000565169.1:c.162+14711T>C
ENST00000569170.5:c.162+14711T>C
NM_001195794.1:c.*1065T>C , LRG_700t1:c.*1065T>C	NP_001182723.1:n.*1065T>C
NM_001256819.1:c.*1378T>C	NP_001243748.1:n.*1378T>C
NM_052995.2:c.344T>C , LRG_700t2:c.344T>C	NP_443721.1:p.Leu115Pro
NM_174878.2:c.*1065T>C	NP_777367.1:n.*1065T>C
NR_046380.2:n.2245T>C
XR_924167.1:n.2076T>C
NM_001256819.2:c.*1378T>C	NP_001243748.1:n.*1378T>C
NM_174878.3:c.*1065T>C MANE Select	NP_777367.1:n.*1065T>C
NR_046380.3:n.1973T>C