Canonical Allele Identifier: CA2704214885

Gene: CLRN1

Linked Data

• dbSNP Id: rs2107927294

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.150927855A>G , CM000665.2:g.150927855A>G	GRCh38
NC_000003.11:g.150645642A>G , CM000665.1:g.150645642A>G	GRCh37
NC_000003.10:g.152128332A>G	NCBI36
NG_009168.1:g.50145T>C , LRG_700:g.50145T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000327047.6:c.*81T>C MANE Select	ENSP00000322280.1:n.*81T>C
ENST00000295911.6:c.342+210T>C	ENSP00000295911.2:n.342+210T>C
ENST00000327047.5:c.*81T>C	ENSP00000322280.1:n.*81T>C
ENST00000562308.5:c.104+13727T>C
ENST00000565169.1:c.162+13727T>C
ENST00000569170.5:c.162+13727T>C
NM_001195794.1:c.*81T>C , LRG_700t1:c.*81T>C	NP_001182723.1:n.*81T>C
NM_001256819.1:c.*394T>C	NP_001243748.1:n.*394T>C
NM_052995.2:c.342+210T>C , LRG_700t2:c.342+210T>C	NP_443721.1:n.342+210T>C
NM_174878.2:c.*81T>C	NP_777367.1:n.*81T>C
NR_046380.2:n.1261T>C
XR_924167.1:n.1092T>C
NM_001256819.2:c.*394T>C	NP_001243748.1:n.*394T>C
NM_174878.3:c.*81T>C MANE Select	NP_777367.1:n.*81T>C
NR_046380.3:n.989T>C