Canonical Allele Identifier: CA2580068965

Gene: CLRN1

Linked Data

• ClinVar Variation Id: 2035530
• ClinVar RCV Id: RCV002890093

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.150972448C>A , CM000665.2:g.150972448C>A	GRCh38
NC_000003.11:g.150690235C>A , CM000665.1:g.150690235C>A	GRCh37
NC_000003.10:g.152172925C>A	NCBI36
NG_009168.1:g.5552G>T , LRG_700:g.5552G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327047.6:c.253+8G>T MANE Select	ENSP00000322280.1:n.253+8G>T
ENST00000468836.2:c.229+8G>T	ENSP00000419892.2:n.229+8G>T
ENST00000644099.1:c.94+8G>T	ENSP00000494762.1:n.94+8G>T
ENST00000645441.1:c.95+8G>T
ENST00000327047.5:c.253+8G>T	ENSP00000322280.1:n.253+8G>T
ENST00000328863.8:c.253+8G>T	ENSP00000329158.4:n.253+8G>T
ENST00000468836.1:c.-148+8G>T	ENSP00000419892.1:n.-148+8G>T
ENST00000472224.1:n.259+8G>T
NM_001195794.1:c.253+8G>T , LRG_700t1:c.253+8G>T	NP_001182723.1:n.253+8G>T
NM_001256819.1:c.253+8G>T	NP_001243748.1:n.253+8G>T
NM_174878.2:c.253+8G>T	NP_777367.1:n.253+8G>T
NR_046380.2:n.544+8G>T
XR_924167.1:n.565+8G>T
NM_001256819.2:c.253+8G>T	NP_001243748.1:n.253+8G>T
NM_174878.3:c.253+8G>T MANE Select	NP_777367.1:n.253+8G>T
NR_046380.3:n.272+8G>T