Canonical Allele Identifier: CA355011922

Gene: CLRN1

Linked Data

• MyVariant Identifiers: chr3:g.150690330T>A (hg19) ; chr3:g.150972543T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.150972543T>A , CM000665.2:g.150972543T>A	GRCh38
NC_000003.11:g.150690330T>A , CM000665.1:g.150690330T>A	GRCh37
NC_000003.10:g.152173020T>A	NCBI36
NG_009168.1:g.5457A>T , LRG_700:g.5457A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327047.6:c.166A>T MANE Select	ENSP00000322280.1:p.Lys56Ter
ENST00000468836.2:c.142A>T	ENSP00000419892.2:p.Lys48Ter
ENST00000644099.1:c.7A>T	ENSP00000494762.1:p.Lys3Ter
ENST00000645441.1:c.8A>T
ENST00000327047.5:c.166A>T	ENSP00000322280.1:p.Lys56Ter
ENST00000328863.8:c.166A>T	ENSP00000329158.4:p.Lys56Ter
ENST00000468836.1:c.-235A>T	ENSP00000419892.1:n.-235A>T
ENST00000472224.1:n.172A>T
NM_001195794.1:c.166A>T , LRG_700t1:c.166A>T	NP_001182723.1:p.Lys56Ter
NM_001256819.1:c.166A>T	NP_001243748.1:p.Lys56Ter
NM_174878.2:c.166A>T	NP_777367.1:p.Lys56Ter
NR_046380.2:n.457A>T
XR_924167.1:n.478A>T
NM_001256819.2:c.166A>T	NP_001243748.1:p.Lys56Ter
NM_174878.3:c.166A>T MANE Select	NP_777367.1:p.Lys56Ter
NR_046380.3:n.185A>T