Canonical Allele Identifier: CA354953095

Gene: CLRN1

Linked Data

• MyVariant Identifiers: chr3:g.150645880T>A (hg19) ; chr3:g.150928093T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.150928093T>A , CM000665.2:g.150928093T>A	GRCh38
NC_000003.11:g.150645880T>A , CM000665.1:g.150645880T>A	GRCh37
NC_000003.10:g.152128570T>A	NCBI36
NG_009168.1:g.49907A>T , LRG_700:g.49907A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327047.6:c.542A>T MANE Select	ENSP00000322280.1:p.Gln181Leu
ENST00000468836.2:c.690A>T	ENSP00000419892.2:n.690A>T
ENST00000295911.6:c.314A>T	ENSP00000295911.2:p.Gln105Leu
ENST00000327047.5:c.542A>T	ENSP00000322280.1:p.Gln181Leu
ENST00000328863.8:c.581A>T	ENSP00000329158.4:p.Gln194Leu
ENST00000468836.1:c.314A>T	ENSP00000419892.1:p.Gln105Leu
ENST00000562308.5:c.104+13489A>T
ENST00000565169.1:c.162+13489A>T
ENST00000569170.5:c.162+13489A>T
NM_001195794.1:c.581A>T , LRG_700t1:c.581A>T	NP_001182723.1:p.Gln194Leu
NM_001256819.1:c.*156A>T	NP_001243748.1:n.*156A>T
NM_052995.2:c.314A>T , LRG_700t2:c.314A>T	NP_443721.1:p.Gln105Leu
NM_174878.2:c.542A>T	NP_777367.1:p.Gln181Leu
NR_046380.2:n.1023A>T
XR_924167.1:n.854A>T
NM_001256819.2:c.*156A>T	NP_001243748.1:n.*156A>T
NM_174878.3:c.542A>T MANE Select	NP_777367.1:p.Gln181Leu
NR_046380.3:n.751A>T