Canonical Allele Identifier: CA85680869

Gene: CLRN1

Linked Data

• dbSNP Id: rs1040998739
• MyVariant Identifiers: chr3:g.150645862G>C (hg19) ; chr3:g.150928075G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.150928075G>C , CM000665.2:g.150928075G>C	GRCh38
NC_000003.11:g.150645862G>C , CM000665.1:g.150645862G>C	GRCh37
NC_000003.10:g.152128552G>C	NCBI36
NG_009168.1:g.49925C>G , LRG_700:g.49925C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000327047.6:c.560C>G MANE Select	ENSP00000322280.1:p.Thr187Ser
ENST00000468836.2:c.708C>G	ENSP00000419892.2:n.708C>G
ENST00000295911.6:c.332C>G	ENSP00000295911.2:p.Thr111Ser
ENST00000327047.5:c.560C>G	ENSP00000322280.1:p.Thr187Ser
ENST00000328863.8:c.599C>G	ENSP00000329158.4:p.Thr200Ser
ENST00000468836.1:c.332C>G	ENSP00000419892.1:p.Thr111Ser
ENST00000562308.5:c.104+13507C>G
ENST00000565169.1:c.162+13507C>G
ENST00000569170.5:c.162+13507C>G
NM_001195794.1:c.599C>G , LRG_700t1:c.599C>G	NP_001182723.1:p.Thr200Ser
NM_001256819.1:c.*174C>G	NP_001243748.1:n.*174C>G
NM_052995.2:c.332C>G , LRG_700t2:c.332C>G	NP_443721.1:p.Thr111Ser
NM_174878.2:c.560C>G	NP_777367.1:p.Thr187Ser
NR_046380.2:n.1041C>G
XR_924167.1:n.872C>G
NM_001256819.2:c.*174C>G	NP_001243748.1:n.*174C>G
NM_174878.3:c.560C>G MANE Select	NP_777367.1:p.Thr187Ser
NR_046380.3:n.769C>G