Canonical Allele Identifier: CA436265258

Gene: CLRN1

Linked Data

• MyVariant Identifiers: chr3:g.150659409C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.150941622C>T , CM000665.2:g.150941622C>T	GRCh38
NC_000003.11:g.150659409C>T , CM000665.1:g.150659409C>T	GRCh37
NC_000003.10:g.152142099C>T	NCBI36
NG_009168.1:g.36378G>A , LRG_700:g.36378G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327047.6:c.393G>A MANE Select	ENSP00000322280.1:p.Leu131=
ENST00000468836.2:c.541G>A	ENSP00000419892.2:n.541G>A
ENST00000644099.1:c.385G>A	ENSP00000494762.1:n.385G>A
ENST00000295911.6:c.165G>A	ENSP00000295911.2:p.Leu55=
ENST00000327047.5:c.393G>A	ENSP00000322280.1:p.Leu131=
ENST00000328863.8:c.393G>A	ENSP00000329158.4:p.Leu131=
ENST00000468836.1:c.165G>A	ENSP00000419892.1:p.Leu55=
ENST00000472224.1:n.399G>A
ENST00000485607.1:c.57G>A	ENSP00000419244.1:p.Leu19=
ENST00000562308.5:c.64G>A
ENST00000565169.1:c.122G>A
ENST00000569170.5:c.122G>A
NM_001195794.1:c.393G>A , LRG_700t1:c.393G>A	NP_001182723.1:p.Leu131=
NM_001256819.1:c.*7G>A	NP_001243748.1:n.*7G>A
NM_052995.2:c.165G>A , LRG_700t2:c.165G>A	NP_443721.1:p.Leu55=
NM_174878.2:c.393G>A	NP_777367.1:p.Leu131=
NR_046380.2:n.835G>A
XR_924167.1:n.705G>A
NM_001256819.2:c.*7G>A	NP_001243748.1:n.*7G>A
NM_174878.3:c.393G>A MANE Select	NP_777367.1:p.Leu131=
NR_046380.3:n.563G>A