Canonical Allele Identifier: CA354955444

Gene: CLRN1

Linked Data

• MyVariant Identifiers: chr3:g.150659407T>A (hg19) ; chr3:g.150941620T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.150941620T>A , CM000665.2:g.150941620T>A	GRCh38
NC_000003.11:g.150659407T>A , CM000665.1:g.150659407T>A	GRCh37
NC_000003.10:g.152142097T>A	NCBI36
NG_009168.1:g.36380A>T , LRG_700:g.36380A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327047.6:c.395A>T MANE Select	ENSP00000322280.1:p.His132Leu
ENST00000468836.2:c.543A>T	ENSP00000419892.2:n.543A>T
ENST00000644099.1:c.387A>T	ENSP00000494762.1:n.387A>T
ENST00000295911.6:c.167A>T	ENSP00000295911.2:p.His56Leu
ENST00000327047.5:c.395A>T	ENSP00000322280.1:p.His132Leu
ENST00000328863.8:c.395A>T	ENSP00000329158.4:p.His132Leu
ENST00000468836.1:c.167A>T	ENSP00000419892.1:p.His56Leu
ENST00000472224.1:n.401A>T
ENST00000485607.1:c.59A>T	ENSP00000419244.1:p.His20Leu
ENST00000562308.5:c.66A>T
ENST00000565169.1:c.124A>T
ENST00000569170.5:c.124A>T
NM_001195794.1:c.395A>T , LRG_700t1:c.395A>T	NP_001182723.1:p.His132Leu
NM_001256819.1:c.*9A>T	NP_001243748.1:n.*9A>T
NM_052995.2:c.167A>T , LRG_700t2:c.167A>T	NP_443721.1:p.His56Leu
NM_174878.2:c.395A>T	NP_777367.1:p.His132Leu
NR_046380.2:n.837A>T
XR_924167.1:n.707A>T
NM_001256819.2:c.*9A>T	NP_001243748.1:n.*9A>T
NM_174878.3:c.395A>T MANE Select	NP_777367.1:p.His132Leu
NR_046380.3:n.565A>T