Canonical Allele Identifier: CA355011812

Gene: CLRN1

Linked Data

• MyVariant Identifiers: chr3:g.150690282T>A (hg19) ; chr3:g.150972495T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.150972495T>A , CM000665.2:g.150972495T>A	GRCh38
NC_000003.11:g.150690282T>A , CM000665.1:g.150690282T>A	GRCh37
NC_000003.10:g.152172972T>A	NCBI36
NG_009168.1:g.5505A>T , LRG_700:g.5505A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000327047.6:c.214A>T MANE Select	ENSP00000322280.1:p.Arg72Trp
ENST00000468836.2:c.190A>T	ENSP00000419892.2:p.Arg64Trp
ENST00000644099.1:c.55A>T	ENSP00000494762.1:p.Arg19Trp
ENST00000645441.1:c.56A>T
ENST00000327047.5:c.214A>T	ENSP00000322280.1:p.Arg72Trp
ENST00000328863.8:c.214A>T	ENSP00000329158.4:p.Arg72Trp
ENST00000468836.1:c.-187A>T	ENSP00000419892.1:n.-187A>T
ENST00000472224.1:n.220A>T
NM_001195794.1:c.214A>T , LRG_700t1:c.214A>T	NP_001182723.1:p.Arg72Trp
NM_001256819.1:c.214A>T	NP_001243748.1:p.Arg72Trp
NM_174878.2:c.214A>T	NP_777367.1:p.Arg72Trp
NR_046380.2:n.505A>T
XR_924167.1:n.526A>T
NM_001256819.2:c.214A>T	NP_001243748.1:p.Arg72Trp
NM_174878.3:c.214A>T MANE Select	NP_777367.1:p.Arg72Trp
NR_046380.3:n.233A>T