Canonical Allele Identifier: CA354953161

Gene: CLRN1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.150928122A>C , CM000665.2:g.150928122A>C	GRCh38
NC_000003.11:g.150645909A>C , CM000665.1:g.150645909A>C	GRCh37
NC_000003.10:g.152128599A>C	NCBI36
NG_009168.1:g.49878T>G , LRG_700:g.49878T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_174878.3:c.513T>G MANE Select	NP_777367.1:p.Tyr171Ter
ENST00000327047.6:c.513T>G MANE Select	ENSP00000322280.1:p.Tyr171Ter
NM_001195794.1:c.552T>G , LRG_700t1:c.552T>G	NP_001182723.1:p.Tyr184Ter
NM_001256819.1:c.*127T>G	NP_001243748.1:n.*127T>G
NM_001256819.2:c.*127T>G	NP_001243748.1:n.*127T>G
NM_052995.2:c.285T>G , LRG_700t2:c.285T>G	NP_443721.1:p.Tyr95Ter
NM_174878.2:c.513T>G	NP_777367.1:p.Tyr171Ter
NR_046380.2:n.994T>G
NR_046380.3:n.722T>G
ENST00000295911.6:c.285T>G	ENSP00000295911.2:p.Tyr95Ter
ENST00000327047.5:c.513T>G	ENSP00000322280.1:p.Tyr171Ter
ENST00000328863.8:c.552T>G	ENSP00000329158.4:p.Tyr184Ter
ENST00000468836.1:c.285T>G	ENSP00000419892.1:p.Tyr95Ter
ENST00000468836.2:c.661T>G	ENSP00000419892.2:n.661T>G
ENST00000562308.5:c.104+13460T>G
ENST00000565169.1:c.162+13460T>G
ENST00000569170.5:c.162+13460T>G
XR_924167.1:n.825T>G