Canonical Allele Identifier: CA436265209

Gene: CLRN1

Linked Data

• MyVariant Identifiers: chr3:g.150659376G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.150941589G>A , CM000665.2:g.150941589G>A	GRCh38
NC_000003.11:g.150659376G>A , CM000665.1:g.150659376G>A	GRCh37
NC_000003.10:g.152142066G>A	NCBI36
NG_009168.1:g.36411C>T , LRG_700:g.36411C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327047.6:c.426C>T MANE Select	ENSP00000322280.1:p.Phe142=
ENST00000468836.2:c.574C>T	ENSP00000419892.2:n.574C>T
ENST00000644099.1:c.418C>T	ENSP00000494762.1:n.418C>T
ENST00000295911.6:c.198C>T	ENSP00000295911.2:p.Phe66=
ENST00000327047.5:c.426C>T	ENSP00000322280.1:p.Phe142=
ENST00000328863.8:c.426C>T	ENSP00000329158.4:p.Phe142=
ENST00000468836.1:c.198C>T	ENSP00000419892.1:p.Phe66=
ENST00000472224.1:n.432C>T
ENST00000485607.1:c.90C>T	ENSP00000419244.1:p.Phe30=
ENST00000562308.5:c.97C>T
ENST00000565169.1:c.155C>T
ENST00000569170.5:c.155C>T
NM_001195794.1:c.426C>T , LRG_700t1:c.426C>T	NP_001182723.1:p.Phe142=
NM_001256819.1:c.*40C>T	NP_001243748.1:n.*40C>T
NM_052995.2:c.198C>T , LRG_700t2:c.198C>T	NP_443721.1:p.Phe66=
NM_174878.2:c.426C>T	NP_777367.1:p.Phe142=
NR_046380.2:n.868C>T
XR_924167.1:n.738C>T
NM_001256819.2:c.*40C>T	NP_001243748.1:n.*40C>T
NM_174878.3:c.426C>T MANE Select	NP_777367.1:p.Phe142=
NR_046380.3:n.596C>T