Canonical Allele Identifier: CA436393905

Gene: CLRN1

Linked Data

• gnomAD v4: 3-150928080-A-G
• MyVariant Identifiers: chr3:g.150645867A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.150928080A>G , CM000665.2:g.150928080A>G	GRCh38
NC_000003.11:g.150645867A>G , CM000665.1:g.150645867A>G	GRCh37
NC_000003.10:g.152128557A>G	NCBI36
NG_009168.1:g.49920T>C , LRG_700:g.49920T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000327047.6:c.555T>C MANE Select	ENSP00000322280.1:p.Tyr185=
ENST00000468836.2:c.703T>C	ENSP00000419892.2:n.703T>C
ENST00000295911.6:c.327T>C	ENSP00000295911.2:p.Tyr109=
ENST00000327047.5:c.555T>C	ENSP00000322280.1:p.Tyr185=
ENST00000328863.8:c.594T>C	ENSP00000329158.4:p.Tyr198=
ENST00000468836.1:c.327T>C	ENSP00000419892.1:p.Tyr109=
ENST00000562308.5:c.104+13502T>C
ENST00000565169.1:c.162+13502T>C
ENST00000569170.5:c.162+13502T>C
NM_001195794.1:c.594T>C , LRG_700t1:c.594T>C	NP_001182723.1:p.Tyr198=
NM_001256819.1:c.*169T>C	NP_001243748.1:n.*169T>C
NM_052995.2:c.327T>C , LRG_700t2:c.327T>C	NP_443721.1:p.Tyr109=
NM_174878.2:c.555T>C	NP_777367.1:p.Tyr185=
NR_046380.2:n.1036T>C
XR_924167.1:n.867T>C
NM_001256819.2:c.*169T>C	NP_001243748.1:n.*169T>C
NM_174878.3:c.555T>C MANE Select	NP_777367.1:p.Tyr185=
NR_046380.3:n.764T>C