Canonical Allele Identifier: CA436265233

Gene: CLRN1

Linked Data

• dbSNP Id: rs771375258
• MyVariant Identifiers: chr3:g.150659393G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.150941606G>A , CM000665.2:g.150941606G>A	GRCh38
NC_000003.11:g.150659393G>A , CM000665.1:g.150659393G>A	GRCh37
NC_000003.10:g.152142083G>A	NCBI36
NG_009168.1:g.36394C>T , LRG_700:g.36394C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327047.6:c.409C>T MANE Select	ENSP00000322280.1:p.Leu137=
ENST00000468836.2:c.557C>T	ENSP00000419892.2:n.557C>T
ENST00000644099.1:c.401C>T	ENSP00000494762.1:n.401C>T
ENST00000295911.6:c.181C>T	ENSP00000295911.2:p.Leu61=
ENST00000327047.5:c.409C>T	ENSP00000322280.1:p.Leu137=
ENST00000328863.8:c.409C>T	ENSP00000329158.4:p.Leu137=
ENST00000468836.1:c.181C>T	ENSP00000419892.1:p.Leu61=
ENST00000472224.1:n.415C>T
ENST00000485607.1:c.73C>T	ENSP00000419244.1:p.Leu25=
ENST00000562308.5:c.80C>T
ENST00000565169.1:c.138C>T
ENST00000569170.5:c.138C>T
NM_001195794.1:c.409C>T , LRG_700t1:c.409C>T	NP_001182723.1:p.Leu137=
NM_001256819.1:c.*23C>T	NP_001243748.1:n.*23C>T
NM_052995.2:c.181C>T , LRG_700t2:c.181C>T	NP_443721.1:p.Leu61=
NM_174878.2:c.409C>T	NP_777367.1:p.Leu137=
NR_046380.2:n.851C>T
XR_924167.1:n.721C>T
NM_001256819.2:c.*23C>T	NP_001243748.1:n.*23C>T
NM_174878.3:c.409C>T MANE Select	NP_777367.1:p.Leu137=
NR_046380.3:n.579C>T