Canonical Allele Identifier: CA436265218

Gene: CLRN1

Linked Data

• ClinVar Variation Id: 1120545
• ClinVar RCV Id: RCV001450506
• dbSNP Id: rs1713844464
• MyVariant Identifiers: chr3:g.150659384A>G (hg19)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327047.6:c.418T>C MANE Select	ENSP00000322280.1:p.Leu140=
ENST00000468836.2:c.566T>C	ENSP00000419892.2:n.566T>C
ENST00000644099.1:c.410T>C	ENSP00000494762.1:n.410T>C
ENST00000295911.6:c.190T>C	ENSP00000295911.2:p.Leu64=
ENST00000327047.5:c.418T>C	ENSP00000322280.1:p.Leu140=
ENST00000328863.8:c.418T>C	ENSP00000329158.4:p.Leu140=
ENST00000468836.1:c.190T>C	ENSP00000419892.1:p.Leu64=
ENST00000472224.1:n.424T>C
ENST00000485607.1:c.82T>C	ENSP00000419244.1:p.Leu28=
ENST00000562308.5:c.89T>C
ENST00000565169.1:c.147T>C
ENST00000569170.5:c.147T>C
NM_001195794.1:c.418T>C , LRG_700t1:c.418T>C	NP_001182723.1:p.Leu140=
NM_001256819.1:c.*32T>C	NP_001243748.1:n.*32T>C
NM_052995.2:c.190T>C , LRG_700t2:c.190T>C	NP_443721.1:p.Leu64=
NM_174878.2:c.418T>C	NP_777367.1:p.Leu140=
NR_046380.2:n.860T>C
XR_924167.1:n.730T>C
NM_001256819.2:c.*32T>C	NP_001243748.1:n.*32T>C
NM_174878.3:c.418T>C MANE Select	NP_777367.1:p.Leu140=
NR_046380.3:n.588T>C