Canonical Allele Identifier: CA355011811

Gene: CLRN1

Linked Data

• gnomAD v4: 3-150972494-C-T
• COSMIC: COSM3427208 ; COSM5826206
• MyVariant Identifiers: chr3:g.150690281C>T (hg19) ; chr3:g.150972494C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.150972494C>T , CM000665.2:g.150972494C>T	GRCh38
NC_000003.11:g.150690281C>T , CM000665.1:g.150690281C>T	GRCh37
NC_000003.10:g.152172971C>T	NCBI36
NG_009168.1:g.5506G>A , LRG_700:g.5506G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000327047.6:c.215G>A MANE Select	ENSP00000322280.1:p.Arg72Lys
ENST00000468836.2:c.191G>A	ENSP00000419892.2:p.Arg64Lys
ENST00000644099.1:c.56G>A	ENSP00000494762.1:p.Arg19Lys
ENST00000645441.1:c.57G>A
ENST00000327047.5:c.215G>A	ENSP00000322280.1:p.Arg72Lys
ENST00000328863.8:c.215G>A	ENSP00000329158.4:p.Arg72Lys
ENST00000468836.1:c.-186G>A	ENSP00000419892.1:n.-186G>A
ENST00000472224.1:n.221G>A
NM_001195794.1:c.215G>A , LRG_700t1:c.215G>A	NP_001182723.1:p.Arg72Lys
NM_001256819.1:c.215G>A	NP_001243748.1:p.Arg72Lys
NM_174878.2:c.215G>A	NP_777367.1:p.Arg72Lys
NR_046380.2:n.506G>A
XR_924167.1:n.527G>A
NM_001256819.2:c.215G>A	NP_001243748.1:p.Arg72Lys
NM_174878.3:c.215G>A MANE Select	NP_777367.1:p.Arg72Lys
NR_046380.3:n.234G>A