Canonical Allele Identifier: CA354953457

Gene: CLRN1

Linked Data

• MyVariant Identifiers: chr3:g.150645974G>C (hg19) ; chr3:g.150928187G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.150928187G>C , CM000665.2:g.150928187G>C	GRCh38
NC_000003.11:g.150645974G>C , CM000665.1:g.150645974G>C	GRCh37
NC_000003.10:g.152128664G>C	NCBI36
NG_009168.1:g.49813C>G , LRG_700:g.49813C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327047.6:c.448C>G MANE Select	ENSP00000322280.1:p.Leu150Val
ENST00000468836.2:c.596C>G	ENSP00000419892.2:n.596C>G
ENST00000295911.6:c.220C>G	ENSP00000295911.2:p.Leu74Val
ENST00000327047.5:c.448C>G	ENSP00000322280.1:p.Leu150Val
ENST00000328863.8:c.487C>G	ENSP00000329158.4:p.Leu163Val
ENST00000468836.1:c.220C>G	ENSP00000419892.1:p.Leu74Val
ENST00000485607.1:c.112C>G	ENSP00000419244.1:p.Leu38Val
ENST00000562308.5:c.104+13395C>G
ENST00000565169.1:c.162+13395C>G
ENST00000569170.5:c.162+13395C>G
NM_001195794.1:c.487C>G , LRG_700t1:c.487C>G	NP_001182723.1:p.Leu163Val
NM_001256819.1:c.*62C>G	NP_001243748.1:n.*62C>G
NM_052995.2:c.220C>G , LRG_700t2:c.220C>G	NP_443721.1:p.Leu74Val
NM_174878.2:c.448C>G	NP_777367.1:p.Leu150Val
NR_046380.2:n.929C>G
XR_924167.1:n.760C>G
NM_001256819.2:c.*62C>G	NP_001243748.1:n.*62C>G
NM_174878.3:c.448C>G MANE Select	NP_777367.1:p.Leu150Val
NR_046380.3:n.657C>G