Canonical Allele Identifier: CA354953057

Gene: CLRN1

Linked Data

• gnomAD v4: 3-150928078-G-A
• MyVariant Identifiers: chr3:g.150645865G>A (hg19) ; chr3:g.150928078G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.150928078G>A , CM000665.2:g.150928078G>A	GRCh38
NC_000003.11:g.150645865G>A , CM000665.1:g.150645865G>A	GRCh37
NC_000003.10:g.152128555G>A	NCBI36
NG_009168.1:g.49922C>T , LRG_700:g.49922C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000327047.6:c.557C>T MANE Select	ENSP00000322280.1:p.Thr186Ile
ENST00000468836.2:c.705C>T	ENSP00000419892.2:n.705C>T
ENST00000295911.6:c.329C>T	ENSP00000295911.2:p.Thr110Ile
ENST00000327047.5:c.557C>T	ENSP00000322280.1:p.Thr186Ile
ENST00000328863.8:c.596C>T	ENSP00000329158.4:p.Thr199Ile
ENST00000468836.1:c.329C>T	ENSP00000419892.1:p.Thr110Ile
ENST00000562308.5:c.104+13504C>T
ENST00000565169.1:c.162+13504C>T
ENST00000569170.5:c.162+13504C>T
NM_001195794.1:c.596C>T , LRG_700t1:c.596C>T	NP_001182723.1:p.Thr199Ile
NM_001256819.1:c.*171C>T	NP_001243748.1:n.*171C>T
NM_052995.2:c.329C>T , LRG_700t2:c.329C>T	NP_443721.1:p.Thr110Ile
NM_174878.2:c.557C>T	NP_777367.1:p.Thr186Ile
NR_046380.2:n.1038C>T
XR_924167.1:n.869C>T
NM_001256819.2:c.*171C>T	NP_001243748.1:n.*171C>T
NM_174878.3:c.557C>T MANE Select	NP_777367.1:p.Thr186Ile
NR_046380.3:n.766C>T