Canonical Allele Identifier: CA355011941

Gene: CLRN1

Linked Data

• MyVariant Identifiers: chr3:g.150690339C>T (hg19) ; chr3:g.150972552C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.150972552C>T , CM000665.2:g.150972552C>T	GRCh38
NC_000003.11:g.150690339C>T , CM000665.1:g.150690339C>T	GRCh37
NC_000003.10:g.152173029C>T	NCBI36
NG_009168.1:g.5448G>A , LRG_700:g.5448G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327047.6:c.157G>A MANE Select	ENSP00000322280.1:p.Glu53Lys
ENST00000468836.2:c.133G>A	ENSP00000419892.2:p.Glu45Lys
ENST00000327047.5:c.157G>A	ENSP00000322280.1:p.Glu53Lys
ENST00000328863.8:c.157G>A	ENSP00000329158.4:p.Glu53Lys
ENST00000468836.1:c.-244G>A	ENSP00000419892.1:n.-244G>A
ENST00000472224.1:n.163G>A
NM_001195794.1:c.157G>A , LRG_700t1:c.157G>A	NP_001182723.1:p.Glu53Lys
NM_001256819.1:c.157G>A	NP_001243748.1:p.Glu53Lys
NM_174878.2:c.157G>A	NP_777367.1:p.Glu53Lys
NR_046380.2:n.448G>A
XR_924167.1:n.469G>A
NM_001256819.2:c.157G>A	NP_001243748.1:p.Glu53Lys
NM_174878.3:c.157G>A MANE Select	NP_777367.1:p.Glu53Lys
NR_046380.3:n.176G>A