Canonical Allele Identifier: CA355012018

Gene: CLRN1

Linked Data

• MyVariant Identifiers: chr3:g.150690380A>T (hg19) ; chr3:g.150972593A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.150972593A>T , CM000665.2:g.150972593A>T	GRCh38
NC_000003.11:g.150690380A>T , CM000665.1:g.150690380A>T	GRCh37
NC_000003.10:g.152173070A>T	NCBI36
NG_009168.1:g.5407T>A , LRG_700:g.5407T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000327047.6:c.116T>A MANE Select	ENSP00000322280.1:p.Leu39His
ENST00000468836.2:c.92T>A	ENSP00000419892.2:p.Leu31His
ENST00000327047.5:c.116T>A	ENSP00000322280.1:p.Leu39His
ENST00000328863.8:c.116T>A	ENSP00000329158.4:p.Leu39His
ENST00000468836.1:c.-285T>A	ENSP00000419892.1:n.-285T>A
ENST00000472224.1:n.122T>A
NM_001195794.1:c.116T>A , LRG_700t1:c.116T>A	NP_001182723.1:p.Leu39His
NM_001256819.1:c.116T>A	NP_001243748.1:p.Leu39His
NM_174878.2:c.116T>A	NP_777367.1:p.Leu39His
NR_046380.2:n.407T>A
XR_924167.1:n.428T>A
NM_001256819.2:c.116T>A	NP_001243748.1:p.Leu39His
NM_174878.3:c.116T>A MANE Select	NP_777367.1:p.Leu39His
NR_046380.3:n.135T>A