Canonical Allele Identifier: CA436393817

Gene: CLRN1

Linked Data

• MyVariant Identifiers: chr3:g.150645734G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.150927947G>A , CM000665.2:g.150927947G>A	GRCh38
NC_000003.11:g.150645734G>A , CM000665.1:g.150645734G>A	GRCh37
NC_000003.10:g.152128424G>A	NCBI36
NG_009168.1:g.50053C>T , LRG_700:g.50053C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327047.6:c.688C>T MANE Select	ENSP00000322280.1:p.Leu230=
ENST00000295911.6:c.342+118C>T	ENSP00000295911.2:n.342+118C>T
ENST00000327047.5:c.688C>T	ENSP00000322280.1:p.Leu230=
ENST00000328863.8:c.727C>T	ENSP00000329158.4:p.Leu243=
ENST00000562308.5:c.104+13635C>T
ENST00000565169.1:c.162+13635C>T
ENST00000569170.5:c.162+13635C>T
NM_001195794.1:c.727C>T , LRG_700t1:c.727C>T	NP_001182723.1:p.Leu243=
NM_001256819.1:c.*302C>T	NP_001243748.1:n.*302C>T
NM_052995.2:c.342+118C>T , LRG_700t2:c.342+118C>T	NP_443721.1:n.342+118C>T
NM_174878.2:c.688C>T	NP_777367.1:p.Leu230=
NR_046380.2:n.1169C>T
XR_924167.1:n.1000C>T
NM_001256819.2:c.*302C>T	NP_001243748.1:n.*302C>T
NM_174878.3:c.688C>T MANE Select	NP_777367.1:p.Leu230=
NR_046380.3:n.897C>T