Canonical Allele Identifier: CA354953052

Gene: CLRN1

Linked Data

• MyVariant Identifiers: chr3:g.150645862G>A (hg19) ; chr3:g.150928075G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.150928075G>A , CM000665.2:g.150928075G>A	GRCh38
NC_000003.11:g.150645862G>A , CM000665.1:g.150645862G>A	GRCh37
NC_000003.10:g.152128552G>A	NCBI36
NG_009168.1:g.49925C>T , LRG_700:g.49925C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000327047.6:c.560C>T MANE Select	ENSP00000322280.1:p.Thr187Ile
ENST00000468836.2:c.708C>T	ENSP00000419892.2:n.708C>T
ENST00000295911.6:c.332C>T	ENSP00000295911.2:p.Thr111Ile
ENST00000327047.5:c.560C>T	ENSP00000322280.1:p.Thr187Ile
ENST00000328863.8:c.599C>T	ENSP00000329158.4:p.Thr200Ile
ENST00000468836.1:c.332C>T	ENSP00000419892.1:p.Thr111Ile
ENST00000562308.5:c.104+13507C>T
ENST00000565169.1:c.162+13507C>T
ENST00000569170.5:c.162+13507C>T
NM_001195794.1:c.599C>T , LRG_700t1:c.599C>T	NP_001182723.1:p.Thr200Ile
NM_001256819.1:c.*174C>T	NP_001243748.1:n.*174C>T
NM_052995.2:c.332C>T , LRG_700t2:c.332C>T	NP_443721.1:p.Thr111Ile
NM_174878.2:c.560C>T	NP_777367.1:p.Thr187Ile
NR_046380.2:n.1041C>T
XR_924167.1:n.872C>T
NM_001256819.2:c.*174C>T	NP_001243748.1:n.*174C>T
NM_174878.3:c.560C>T MANE Select	NP_777367.1:p.Thr187Ile
NR_046380.3:n.769C>T