Canonical Allele Identifier: CA354955365

Gene: CLRN1

Linked Data

• MyVariant Identifiers: chr3:g.150659388G>C (hg19) ; chr3:g.150941601G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.150941601G>C , CM000665.2:g.150941601G>C	GRCh38
NC_000003.11:g.150659388G>C , CM000665.1:g.150659388G>C	GRCh37
NC_000003.10:g.152142078G>C	NCBI36
NG_009168.1:g.36399C>G , LRG_700:g.36399C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327047.6:c.414C>G MANE Select	ENSP00000322280.1:p.Tyr138Ter
ENST00000468836.2:c.562C>G	ENSP00000419892.2:n.562C>G
ENST00000644099.1:c.406C>G	ENSP00000494762.1:n.406C>G
ENST00000295911.6:c.186C>G	ENSP00000295911.2:p.Tyr62Ter
ENST00000327047.5:c.414C>G	ENSP00000322280.1:p.Tyr138Ter
ENST00000328863.8:c.414C>G	ENSP00000329158.4:p.Tyr138Ter
ENST00000468836.1:c.186C>G	ENSP00000419892.1:p.Tyr62Ter
ENST00000472224.1:n.420C>G
ENST00000485607.1:c.78C>G	ENSP00000419244.1:p.Tyr26Ter
ENST00000562308.5:c.85C>G
ENST00000565169.1:c.143C>G
ENST00000569170.5:c.143C>G
NM_001195794.1:c.414C>G , LRG_700t1:c.414C>G	NP_001182723.1:p.Tyr138Ter
NM_001256819.1:c.*28C>G	NP_001243748.1:n.*28C>G
NM_052995.2:c.186C>G , LRG_700t2:c.186C>G	NP_443721.1:p.Tyr62Ter
NM_174878.2:c.414C>G	NP_777367.1:p.Tyr138Ter
NR_046380.2:n.856C>G
XR_924167.1:n.726C>G
NM_001256819.2:c.*28C>G	NP_001243748.1:n.*28C>G
NM_174878.3:c.414C>G MANE Select	NP_777367.1:p.Tyr138Ter
NR_046380.3:n.584C>G