Canonical Allele Identifier: CA354955333

Gene: CLRN1

Linked Data

• MyVariant Identifiers: chr3:g.150659384A>C (hg19) ; chr3:g.150941597A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.150941597A>C , CM000665.2:g.150941597A>C	GRCh38
NC_000003.11:g.150659384A>C , CM000665.1:g.150659384A>C	GRCh37
NC_000003.10:g.152142074A>C	NCBI36
NG_009168.1:g.36403T>G , LRG_700:g.36403T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327047.6:c.418T>G MANE Select	ENSP00000322280.1:p.Leu140Val
ENST00000468836.2:c.566T>G	ENSP00000419892.2:n.566T>G
ENST00000644099.1:c.410T>G	ENSP00000494762.1:n.410T>G
ENST00000295911.6:c.190T>G	ENSP00000295911.2:p.Leu64Val
ENST00000327047.5:c.418T>G	ENSP00000322280.1:p.Leu140Val
ENST00000328863.8:c.418T>G	ENSP00000329158.4:p.Leu140Val
ENST00000468836.1:c.190T>G	ENSP00000419892.1:p.Leu64Val
ENST00000472224.1:n.424T>G
ENST00000485607.1:c.82T>G	ENSP00000419244.1:p.Leu28Val
ENST00000562308.5:c.89T>G
ENST00000565169.1:c.147T>G
ENST00000569170.5:c.147T>G
NM_001195794.1:c.418T>G , LRG_700t1:c.418T>G	NP_001182723.1:p.Leu140Val
NM_001256819.1:c.*32T>G	NP_001243748.1:n.*32T>G
NM_052995.2:c.190T>G , LRG_700t2:c.190T>G	NP_443721.1:p.Leu64Val
NM_174878.2:c.418T>G	NP_777367.1:p.Leu140Val
NR_046380.2:n.860T>G
XR_924167.1:n.730T>G
NM_001256819.2:c.*32T>G	NP_001243748.1:n.*32T>G
NM_174878.3:c.418T>G MANE Select	NP_777367.1:p.Leu140Val
NR_046380.3:n.588T>G