Canonical Allele Identifier: CA355011964

Gene: CLRN1

Linked Data

• MyVariant Identifiers: chr3:g.150690352A>T (hg19) ; chr3:g.150972565A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.150972565A>T , CM000665.2:g.150972565A>T	GRCh38
NC_000003.11:g.150690352A>T , CM000665.1:g.150690352A>T	GRCh37
NC_000003.10:g.152173042A>T	NCBI36
NG_009168.1:g.5435T>A , LRG_700:g.5435T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327047.6:c.144T>A MANE Select	ENSP00000322280.1:p.Asn48Lys
ENST00000468836.2:c.120T>A	ENSP00000419892.2:p.Asn40Lys
ENST00000327047.5:c.144T>A	ENSP00000322280.1:p.Asn48Lys
ENST00000328863.8:c.144T>A	ENSP00000329158.4:p.Asn48Lys
ENST00000468836.1:c.-257T>A	ENSP00000419892.1:n.-257T>A
ENST00000472224.1:n.150T>A
NM_001195794.1:c.144T>A , LRG_700t1:c.144T>A	NP_001182723.1:p.Asn48Lys
NM_001256819.1:c.144T>A	NP_001243748.1:p.Asn48Lys
NM_174878.2:c.144T>A	NP_777367.1:p.Asn48Lys
NR_046380.2:n.435T>A
XR_924167.1:n.456T>A
NM_001256819.2:c.144T>A	NP_001243748.1:p.Asn48Lys
NM_174878.3:c.144T>A MANE Select	NP_777367.1:p.Asn48Lys
NR_046380.3:n.163T>A