Canonical Allele Identifier: CA354953098

Gene: CLRN1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.150928094G>A , CM000665.2:g.150928094G>A	GRCh38
NC_000003.11:g.150645881G>A , CM000665.1:g.150645881G>A	GRCh37
NC_000003.10:g.152128571G>A	NCBI36
NG_009168.1:g.49906C>T , LRG_700:g.49906C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_174878.3:c.541C>T MANE Select	NP_777367.1:p.Gln181Ter
ENST00000327047.6:c.541C>T MANE Select	ENSP00000322280.1:p.Gln181Ter
NM_001195794.1:c.580C>T , LRG_700t1:c.580C>T	NP_001182723.1:p.Gln194Ter
NM_001256819.1:c.*155C>T	NP_001243748.1:n.*155C>T
NM_001256819.2:c.*155C>T	NP_001243748.1:n.*155C>T
NM_052995.2:c.313C>T , LRG_700t2:c.313C>T	NP_443721.1:p.Gln105Ter
NM_174878.2:c.541C>T	NP_777367.1:p.Gln181Ter
NR_046380.2:n.1022C>T
NR_046380.3:n.750C>T
ENST00000295911.6:c.313C>T	ENSP00000295911.2:p.Gln105Ter
ENST00000327047.5:c.541C>T	ENSP00000322280.1:p.Gln181Ter
ENST00000328863.8:c.580C>T	ENSP00000329158.4:p.Gln194Ter
ENST00000468836.1:c.313C>T	ENSP00000419892.1:p.Gln105Ter
ENST00000468836.2:c.689C>T	ENSP00000419892.2:n.689C>T
ENST00000562308.5:c.104+13488C>T
ENST00000565169.1:c.162+13488C>T
ENST00000569170.5:c.162+13488C>T
XR_924167.1:n.853C>T