Canonical Allele Identifier: CA355012124

Gene: CLRN1

Linked Data

• gnomAD v4: 3-150972645-G-T
• MyVariant Identifiers: chr3:g.150690432G>T (hg19) ; chr3:g.150972645G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.150972645G>T , CM000665.2:g.150972645G>T	GRCh38
NC_000003.11:g.150690432G>T , CM000665.1:g.150690432G>T	GRCh37
NC_000003.10:g.152173122G>T	NCBI36
NG_009168.1:g.5355C>A , LRG_700:g.5355C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327047.6:c.64C>A MANE Select	ENSP00000322280.1:p.Leu22Ile
ENST00000468836.2:c.40C>A	ENSP00000419892.2:p.Leu14Ile
ENST00000327047.5:c.64C>A	ENSP00000322280.1:p.Leu22Ile
ENST00000328863.8:c.64C>A	ENSP00000329158.4:p.Leu22Ile
ENST00000468836.1:c.-337C>A	ENSP00000419892.1:n.-337C>A
ENST00000472224.1:n.70C>A
NM_001195794.1:c.64C>A , LRG_700t1:c.64C>A	NP_001182723.1:p.Leu22Ile
NM_001256819.1:c.64C>A	NP_001243748.1:p.Leu22Ile
NM_174878.2:c.64C>A	NP_777367.1:p.Leu22Ile
NR_046380.2:n.355C>A
XR_924167.1:n.376C>A
NM_001256819.2:c.64C>A	NP_001243748.1:p.Leu22Ile
NM_174878.3:c.64C>A MANE Select	NP_777367.1:p.Leu22Ile
NR_046380.3:n.83C>A